A 60-year-old previously healthy male farmer presented to the outpatient department with repeated falls and gait unsteadiness for the last 4 months. He had insidious onset, gradually progressive asymmetric stiffening involving both lower limbs for the last 6 months. For the last 10–12 months, the patient started having symmetrical onset tingling paresthesia in both lower limbs, distal to begin with, gradually ascending upwards, and later involving the distal upper limbs also, in a typical “gloves-stockings” pattern associated with diminished sensation in the corresponding areas over last 3 months. He also complained that he had remarkably diminished sensations below the nipple level for the last 2 months. He complained of increased urinary frequency, urgency, and urge incontinence for the last 4 weeks. There was no associated back pain, girdle-like sensation, plaster-cast sensation, zone of hyperesthesia, or root pain. He and his caregivers refuted a history of any episodes of seizure, altered sensorium, cranial nerve symptoms, headache, visual blurring, vomiting, chronic diarrhea, weight loss, fever, joint pain, or skin rashes.

The general examination was remarkable for oral ulcers, atrophic glossitis, smooth and magenta-colored tongue, non-segmental vitiligo, pallor, and  hyperpigmentation on the palms (Fig. 1A and 1B). The cognitive evaluation revealed errors in the A-vigil test and trail-making test; the forward digit span was 4, and the backward digit span was 3, suggesting predominant deficits in attention and working memory. Assessments for conceptualization, abstract thinking, similarities and dissimilarities, and behavioral domain were unremarkable. There was mild asymmetric atrophy predominantly in the lower limbs, both proximally and distally; upper limbs also had evidence of early atrophy distally. There was generalized hypertonia (lower limbs more than upper limbs) with brisk deep tendon reflexes, including extensor planter responses, except a bilateral loss of ankle jerks. Motor power in both upper and lower limbs was preserved proximally. However, distally it was 4/5 in the lower limbs. There was associated truncal and neck flexor weakness. Sensory examination revealed decreased sensation of all modalities below the nipple level. Besides, fine touch was decreased in upper limbs up to elbow joints. Joint position sense was impaired up to the knee, and graded loss of vibration sense was observed in the lower limbs, the entire spine, and the wrist in the upper limb. Cerebellar functions were normal; Romberg's sign was positive.

Fig. 1.

The figure shows hyperpigmentation on the palms of the hands (especially palmar creases) (A) and non-segmental vitiligo and magenta-colored depapillated tongue (B). (For interpretation of the references to color in this figure legend, the reader is referred to the web version of this article.)

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A complete blood cell count revealed decreased hemoglobin levels of 10.0 g/dL with a mean corpuscular volume of 125 fL (normal: 80–100) with hyper-segmented neutrophils. Liver function tests revealed mild unconjugated hyperbilirubinemia with normal liver enzyme levels. Serum lactate dehydrogenase levels were raised. Renal and thyroid function tests, blood glucose indices, and serum electrolytes were within normal limits. However, magnetic resonance imaging (MRI) of the brain revealed non-specific white-matter changes; a spinal MRI was normal. Serologies for HIV (1, 2), hepatitis B, C, and syphilis were negative. A nerve conduction study suggested an acquired sensorimotor (sensory more than motor) axonal polyradiculoneuropathy. Serum vitamin B12 levels were severely low (40 pg/mL; normal 197–771 pg/mL). Subsequent testing revealed the presence of hypergastrinemia and anti-parietal cell and anti-intrinsic factor autoantibodies, confirming the diagnosis of pernicious anemia. The patient refused to undergo upper gastrointestinal endoscopy and biopsy for histopathological confirmation of atrophic gastritis.

Serum homocysteine (90 μmol/L; normal 5.46–16.2) and methylmalonic acid levels (2056 nmol/L; normal 50–440) were high. Serum folic acid, vitamin E, and copper levels were normal, as well as the visual evoked potentials and the cerebrospinal fluid (CSF) analysis. Autoimmune (antinuclear antibody [ANA-hep 2 method], anti-nuclear antibody profile including anti-Ro and anti-La autoantibodies), and paraneoplastic profile were negative. Serum calcium and angiotensin-converting enzyme levels were normal. 2-[fluorine 18] fluoro-2-deoxy-D-glucose positron emission tomography/computed tomography scan of the whole body was unremarkable. Considering the diagnosis of pernicious anemia with B12-deficiency-related MRI-negative myeloneuropathy, he was prescribed methylcobalamin (1500 mcg intramuscularly once daily for 5 consecutive days; then once per week for 5 consecutive weeks; and then once per month to continue). There was a marked improvement in the motor and sensory symptoms. At the end of 6 months, motor power of both proximal and distal groups of muscles of both upper and lower limbs reached 5/5, along with definite improvement in sensory examination in the areas of previously diminished sensation. The bladder dysfunction though initially persisted, improved subsequently after 6 months. There was also a marked normalization of the hematological parameters.

A 31-year-old previously healthy adult male presented to the outpatient department with a history of subacute onset, progressive, symmetrical tingling and numbness starting from both feet ascending to knee level and progressive stiffness of both lower limbs, and frequent tripping and falling while walking for the last 6 months. There was no history of cognitive impairment, cranial nerve, cerebellar, or bowel/bladder dysfunctions. Historically, none of his family members suffered from any similar neurological illness. He did not undergo any surgical procedure for any reason in the past and had no substance addiction. The general examination, neurocognitive functions, and speech were normal. Motor examination revealed that he had symmetrical clumsiness, hypertonia, hypertonia/spasticity, and mild weakness (MRC grade 4) in all groups of muscles of the lower limbs; the strength of both upper limbs was normal. All the deep tendon reflexes were brisk and plantar response was bilaterally extensor with prominent ankle clonus. Gait examination revealed a high stepping, spastic, and ataxic gait. Romberg's sign was positive and sensory examination revealed significant impairment in vibration and joint position sense. He was provisionally diagnosed with a case of myeloneuropathy with possible localization over the cervical spine.

A complete blood cell count revealed hypochromic microcytic anemia. Liver, kidney, and thyroid function tests, serum electrolytes, and blood glucose parameters were within normal limits. Contrast-enhanced MRI of the spinal cord revealed longitudinally extensive signal changes predominantly involving the posterior column over the cervical cord (Fig. 2A and B). Nerve conduction studies were otherwise suggestive of predominantly large-fiber axonal sensory neuropathy. Serum vitamin B12 and vitamin E levels, serum homocysteine, urine methylmalonic acid, and folic acid levels were normal. Anti-aquaporin-4 (AQP-4) antibody, anti-myelin-oligodendrocyte glycoprotein (MOG)-antibody, CSF IgG index, oligoclonal bands, and visual evoked potentials were normal. Plasma and CSF VDRL and FTA-abs were negative. Vasculitis screen and autoimmune profile, HIV (1, 2), hepatitis B, C, and HTLV serologies were also negative. Serum angiotensin-converting enzyme level was normal. Interestingly, serum copper level was extremely low (25 mcg/dL; normal 70–140 mcg/dL) with low ceruloplasmin (15 mcg/dL; normal 20–40 mcg/dL) and low 24-h urinary copper (15mcg/dL; normal 20–50mcg/dL). However, the etiology of copper deficiency in this case initially remained unclear as medical/surgical history, celiac disease profile (anti-TTG, anti-gliadin, anti-EMA, and HLA typing for celiac disease) were all negative, and small-intestinal biopsy ruled out any other malabsorption syndromes. Serum zinc levels were subsequently requested and found to be elevated (220 mcgg/dL; normal 70–150 mcg/dL). Zinc overload has been implicated in copper deficiency. On retrospective review, our patient had been excessively using an over-the-counter oral zinc-containing drug for chronic diarrhea-predominant irritable bowel syndrome for the last 4 years.

Fig. 2.

MRI of the cervical spine reveals longitudinally extensive signal changes, hyper on T2-weighted image (A, sagittal and B, axial) extending from the craniovertebral junction up to C4 level, distinctly involving the posterior column of the high-cervical cord.

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A 38-year-old male presented to the outpatient department with insidious onset progressive tingling sensations in a “gloves-stockings” pattern for the last 2 years. It was followed by progressive gait unsteadiness (walking in the dark was particularly impossible at the presentation) for the last year. For the last 4–6 months, he also complained of fatigue, painful cramps, and stiffness in his lower limbs. Three years back, he was diagnosed with malabsorption syndrome due to widespread active Crohn's disease, for which he was on maintenance therapy with oral mesalazine pellets (2 g/day) and parenteral vitamin D, folic acid, and iron infusion as required. During the COVID-19 pandemic, he could not follow-up at his inflammatory bowel disease clinic for almost 2 years; at the current admission, he suffered from persistent diarrheal episodes and involuntary weight loss. There was no history of any addiction. No one among family members had similar sufferings. General examination was unremarkable except few signs of malnutrition and vitamin deficits (e.g., bilateral Bitot spots). Neurological examination revealed normal speech and cognitive functions, no cranial nerve deficits, bilateral lower limb spasticity (except around ankle joints), and exaggerated deep tendon reflexes (except absent bilateral ankle deep tendon reflexes) with extensor plantar responses. Strength in all muscle groups was preserved. Vibration sense was remarkably reduced below the iliac crests and decreased below the wrists; joint position sense was diminished in the fingers and toes. Superficial sensations were normal. Gait examination revealed broad-based, high-steppage, spastic ataxic gait, impaired tandem walking, and a markedly positive Romberg's sign.

A complete blood cell count, renal, hepatic, and thyroid function tests, serum electrolytes, and creatine phosphokinase levels were normal. The fecal calprotectin level was high. MRI of the brain revealed some non-specific white matter changes and mild cerebellar atrophy. MRI of the spinal cord revealed no intramedullary intensity changes but atrophy of the cervical cord. CSF studies ruled out infective, demyelinating, and inflammatory conditions. Suspecting an underlying fat malabsorption and nutrient deficiency syndrome, vitamin A, D, and E levels were tested, and vitamin A and E levels were extremely low. Repletion with parenteral vitamins A and E was started. Progression of the neurological deficits was arrested, but the patient continued to show mild lower limb spasticity and sensory ataxia.

After 10 weeks, a 36-year-old male farmer presented to the outpatient department as a follow-up case of deliberate self-harm by organophosphate ingestion. He attempted suicide by drinking 150 mL of a mixture containing chloropyriphos 50% (O, O-diethyl O-3,5,6- trichloropyridin-2-yl phosphorothioate) and cypermethrin 5% (a synthetic pyrethroid) following an episode of familial disharmony. He developed classical features of organophosphate poisoning and was treated with gastric lavage, atropine, pralidoxime infusion, and other supportive measures. He did not require mechanical ventilation, and over the following 7 days, he made an uneventful recovery and was discharged without any neurological deficits.

This time around, he was brought to us by his caregivers with complaints of insidious onset, gradually progressive stiffness of bilateral lower limbs with walking difficulty, and frequent tripping and falls. Neurological examination revealed significant spasticity in the lower limbs with brisk deep tendon reflexes, including extensor plantar responses. There was no sensory loss of any of the modalities. He had weakness of foot dorsiflexion bilaterally, which was 3+/5 on MRC grading. The small muscles of the feet were wasted with hammer toes and pes cavus bilaterally. The combination of foot drop, scissoring, and ankle clonus gave his gait a peculiar bobbing character. The upper limbs were essentially normal on neurological examination. He also complained of bladder symptoms in the form of urgency and occasional urge incontinence.

MRI showed mildly roomy CSF space around the dorsal cord without any signal changes in the cord suggestive of focal dorsal cord atrophy (Fig. 3A, B, C) with no abnormal findings in the brain. CSF evaluation was non-contributory. A complete blood cell count, renal, hepatic, and thyroid function tests, serum electrolytes, and blood glucose profile were within normal limits. Serum B12, folate, copper, and vitamin E levels were normal. Autoimmune and paraneoplastic panels were negative, including a whole-body 2-[fluorine 18] fluoro-2-deoxy-D-glucose positron emission tomography/computed tomography scan. Finally, a diagnosis of delayed toxic myeloneuropathy following organophosphate poisoning was made. He was put on intravenous bolus methylprednisolone (1 g/day for 5 days) followed by oral steroids in gradually tapering dosage over the next month along with vitamin D, calcium, and potassium supplements. His neurological condition remained static.

Fig. 3.

MRI of the dorsal spine reveals a focal cord thinning (A: sagittal T2-weighted image, B: axial T2-weighted image, C: sagittal T1-weighted image) at D3–D10 suggestive of focal dorsal cord atrophy.

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A 35-year-old previously healthy male farmer presented to the outpatient department with insidious onset, gradually progressive burning sensation over both palms and soles for the last 6 months. It was followed by excessive and unusual sensitivity to non-painful sensory stimuli (i.e., touches that were not usually painful triggered severe painful sensations) for the last month and gradually progressive weakness of both lower limbs for the last 10 days. He had to undergo urinary catheterization 1 month ago, as he developed an episode of acute urinary retention. Since then, he developed increased urinary urgency and frequency and urge incontinence episodes. He had a history of chronic alcohol abuse. No other relevant medical/surgical and familial history could be obtained.

A general examination revealed many stigmata of chronic alcoholic non-decompensated liver disease. Neurological examination revealed normal speech, cognitive, cranial nerves, and cerebellar functions. Motor examination revealed flaccid areflexic paraparesis (3−/5 in proximal muscles and 2−/5 in distal muscles in lower limbs) and bilateral Babinski sign. The motor power of the upper limbs was normal, and the deep tendon reflexes over the upper limbs were exaggerated. Dysautonomic features were evident on bedside autonomic function tests. MRI of the brain and spinal cord revealed no abnormality except features of early cerebellar atrophy. Nerve conduction studies revealed an acquired axonal sensorimotor polyneuropathy (lower limbs more than upper limbs).

A complete blood count revealed macrocytic hypochromic anemia. Liver function tests revealed an altered albumin/globulin ratio with 3-fold increased liver enzymes. Serum gamma-glutamyl transferase was raised. Serum B1 (thiamine), B6, B12, folic acid, copper, vitamin E, homocysteine, urinary methylmalonic acid, blood glycemic indices, and lipid profile were all normal. Relevant viral serologies were negative. Autoimmune connective tissue disease, paraneoplastic, and vasculitis profiles were negative. A whole body 2-[fluorine 18] fluoro-2-deoxy-D-glucose positron emission tomography/computed tomography scan was negative too.

He was given parenteral B1, B6, B12, and folic acid injections. After 6 weeks of therapy, there were some symptomatic improvements, but bladder urgency persisted.

An 18-year-old homeless male teenager was admitted to the emergency department as he complained of a sudden inability to move his lower limbs and urine retention for the last 4–6 h. He also complained of tingling and paresthesias in a stocking pattern involving both his feet that started before developing weakness 46 h after the sniffing event. He was a known illicit substance abuser who had beenbrought to the emergency room multiple times previously for acute substance intoxication or withdrawal syndrome. This time, a group of railway officials brought him to us as he was found paralyzed on a farm near the railway quarters. Those officials complained that the boy inhaled heroin vapors on and off, along with other substance abuse. The patient told us that he had abstained from heroin use for more than 2 years before this incident. He denied any history of febrile illness, trauma, intravenous drug abuse, alcoholism, needle-sharing, or similar illness in any crew members (with whom he resided and shared addictive substances). The general survey was unremarkable. Neurological examination was remarkable for acute flaccid paraplegia with symmetrical length-dependent predominantly distal sensory disturbances (reduced sensations to all modalities, including vibration and joint position senses). All deep tendon reflexes in the lower limbs were absent, and extensor plantar responses were mute.

A complete metabolic panel was within normal limits. MRI of the spinal cord revealed a longitudinally extensive spinal cord lesion over the dorsal cord extending from D4 to D10 (Fig. 4A, B, C). Nerve conduction studies study after 1 week revealed an acquired axonal sensorimotor polyneuropathy. Metabolic, nutritional, inflammatory, infective, and immune-mediated etiologies were ruled out precisely with relevant investigations. Amid toxic myeloneuropathies, other causes were ruled out precisely from historical correlates, and a diagnosis of heroin-induced myeloneuropathy was performed. His recovery was incomplete despite pulse intravenous methylprednisolone therapy followed by intravenous immunoglobulin infusion.

Fig. 4.

MRI of the dorsal spine reveals a longitudinally extensive hyperintense lesion on T2-weighted image (A, sagittal, and B and C, axial) extending from D4 to D10 suggestive of long segment myelopathy.

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A 29-year-old previously healthy female presented with sudden-onset static symmetrical weakness of all 4 limbs and acute retention of urine (catheterized) 1 week back. She also complained of a band-like sensation around her nipple line. Two months ago, when she was feeling tingling and dysesthesias involving both upper and lower limbs in a gloves-stockings pattern, she consulted a physician and was diagnosed with primary hypothyroidism and put on oral levothyroxine 75 mcg/day alongside calcium/vitamin D3 supplementation, which did not help to relieve her symptoms. For the last month, she felt unsteady while walking through narrow passages. General examination was unremarkable. Neurological examination revealed symmetrical spastic quadriparesis (MRC grade 4/5 in upper limbs and 3+/5 in lower limbs) with bilaterally extensor plantar responses and absent knee and ankle jerks with loss of pain/temperature and crude touch sensations below T4 level and loss of joint position and vibration senses.

A complete blood cell count, renal and liver function tests, serum electrolytes, blood glucose parameters, creatine phosphokinase levels, vitamins B1, B6, B12, D, E, and copper levels were within normal limits. However, an MRI of the spinal cord revealed a contrast-enhanced T2-hyperintense lesion at C5 to D1 level (Fig. 5A, B, C). Nerve conduction studies showed an acquired sensorimotor axonal polyneuropathy (lower limbs more than upper limbs). Anti-thyroid antibodies (anti-TPO, TRAB, anti-TG) were raised in high titers. Other autoimmune, metabolic, toxic, vasculitic, paraneoplastic, and neuroinfectious etiologies were ruled out with relevant tests. She was put on pulse intravenous methylprednisolone therapy (1 g/day for 5 consecutive days), followed by oral prednisolone in tapering doses for the next 3 months with close monitoring. After a week of intravenous methylprednisolone therapy, motor power normalized, but sensory dysesthesias persisted for another 2 months before abatement. At the sixth month of follow-up, she still required 10 mg/day of prednisolone but was utterly free of any neurological deficit.

Fig. 5.

MRI of the cervical spine reveals a extensive hyperintense lesion on the T2-weighted image and T2-STIR (A and B, sagittal and C, axial) extending from C5 to D1 level with minimal focal cord swelling suggestive of long segment myelopathy.

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A 36-year-old female complained of insidious onset, rapidly progressive (now static), intolerable pins-and-needles and burning sensations over her hands and feet, and plaster-cast sensations over bilateral lower limbs for the last 3 months. She had multiple consultations from different specialties and was diagnosed and treated with somatoform/fibromyalgia-like syndrome without any symptomatic improvement. She also complained of stiffness in her lower limbs for the last month, occasional involuntary painful spasmodic contractions involving her lower limbs at night, and a sense of unsteadiness while walking. There was a history of urinary urgency and urge incontinence for the last 1–2 months. On further probing, she disclosed that she had been feeling a gritty sensation in her eyes and dry mouth for the last 6–12 months, for which she was having difficulties eating dry foods and had to take sips of water while eating repeatedly.

The general examination was unremarkable except for dryness of mouth and eyes. Neurological examination was normal, but the deep tendon reflexes in the upper limbs were diminished and absent bilaterally in the knees and ankles, with bilateral extensor planter responses. Vibration senses were lost to the spinous process of C7, and joint position senses to the knee in the lower limbs and the elbow in the upper limbs.

A complete blood cell count, hepatic, renal, thyroid, and glucose profiles, electrolytes, serum protein electrophoresis, vitamin B12, folic acid, copper, and vitamin E levels were within normal limits. CSF studies revealed mild lymphocytic pleocytosis (cell count 12, all lymphocytes) with raised protein levels (86 mg/dL). Relevant neuroinfectious agents were ruled out by appropriate testing. Antinuclear antibodies were raised in the titer of 1:100. Anti-Ro and anti-La autoantibodies were strongly positive, but anti-ds DNA and anti-Sm were negative. Rheumatoid factor and anti-cyclic citrullinated peptide were negative. Schirmer's test was positive in both eyes (2 mm/5 min in the right eye and 3 mm/5 min in the left eye). MRI of the spinal cord and brain revealed no significant abnormal signal intensity. However, nerve conduction studies revealed a sensorimotor (sensory more than motor) axonal polyneuropathy with absent F-waves and H-reflexes.

The patient did not give consent for salivary gland biopsy and nerve biopsy. She was treated with IV methylprednisolone 1 g/d for 5 days, followed by oral prednisolone 40 mg/day. She showed improvement in the symptoms after 2 weeks of therapy. Sensory symptoms were reduced remarkably, and sensory ataxia resolved, but spasticity persisted at the sixth month of follow-up. Symptomatic treatment for sicca symptoms was also started.

A 25-year-old previously healthy female was admitted to the emergency room with acute onset flaccid quadriparesis associated with acute urinary retention (relieved by Foley's catheterization) and diminished sensation to all modalities below the neck level for the last 4 days. She had a history of hospital admission for high-grade fever, large joint polyarthralgia, and myalgia with rash 5 weeks back, diagnosed as acute chikungunya infection. Family history and personal history were uninformative. The general examination was unremarkable. Neurological examination revealed she had flaccid areflexic symmetric quadriparesis (MRC grade 2 in all muscle groups) with a definite sensory level at T1 with loss of sensations to all modalities below this level. Cognitive functions and cranial nerve examinations were normal.

A complete blood cell count, hepatic, renal, and thyroid function tests, blood glucose indices, serum electrolytes, and lipid profile were normal. MRI of the spinal cord revealed a non-enhancing longitudinally extensive confluent T2-hyperintense lesion involving the cord from the cervical-medullary junction to the D10–D11 region (Fig. 6A, B, C; complete study of dorsal cord has not been included due to poor resolution issues). Brain imaging was normal. Nerve conduction studies revealed an acquired sensorimotor axonal polyneuropathy (lower limbs more than upper limbs). ANA-Hep2, ANA profile, anti-AQP4, and anti-MOG antibodies were negative, as were the vasculitis and paraneoplastic profiles. CSF study revealed lymphocytic pleocytosis with raised protein levels and increased CSF IgG index. Relevant serological testing for neuroviruses panel, SARS-CoV-2, HIV (1, 2), HBV, HCV, and syphilis were negative. She was put on high-dose intravenous bolus methyl-prednisolone therapy (1 g/day for 5 days) followed by oral prednisolone for the next 12 weeks in tapering doses with monitoring for adverse effects. After 5 days of intravenous methylprednisolone therapy, his motor strength improved to 3+/5 and remained so till the subsequent follow-up at 6 weeks. At the 12th week of follow-up, she was self-ambulatory, but bladder symptoms were persistent (though reduced in intensity).

Fig. 6.

MRI of the cervical spine reveals a longitudinally extensive hyperintense lesion on the T2-weighted image and T2-STIR (A and B, sagittal, and C, axial) extending from the lower medulla to D5 level suggestive of cervical–dorsal myelopathy.

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A 48-year-old female was admitted to the clinic with subacute-onset gradually progressive asymmetric non-length dependent tingling and paresthesias, stiffness, and intermittent cramps/spasms involving both lower limbs for 3 months. In the last 2 months, she also complained of lightheadedness, postural symptoms, and 3–4 episodes of postural syncope upon standing from a sitting position. She also complained of severe postprandial fullness, nausea, and constipation over the last 3 months. Since last month, she noticed a sense of imbalance, increased stiffness, and occasional tripping while walking, aggravated in the dark and going downstairs. She also noticed increased urinary urgency, frequency, and intermittent incontinence for the last 4–6 weeks. Her caregivers gave a history of involuntary weight loss for the last 2 months. General examination was remarkable for cachexia, pallor, and left-sided incomplete Horner's syndrome. Neurological examination revealed asymmetric spastic paraparesis (MRC grade 4/5 in the right and 4+/5 in the left lower limb) and bilateral Babinski sign, but lower limb hyporeflexia, with patchy, non-length-dependent sensory loss, and impaired joint position and vibration senses besides autonomic dysfunctions. Cognitive functions, cranial nerves, and cerebellar functions were within normal limits.

A complete blood cell count and metabolic profile were only remarkable for chronic disease anemia and raised erythrocyte sedimentation rate. Biopsy revealed non-small cell lung carcinoma. A chest X-ray revealed a left upper lobe lung mass. MRI of the brain and spinal cord revealed extensive transverse myelitis extending from C4 to D1 level (Fig. 7A, B, C). A nerve conduction study revealed an asymmetric sensorimotor axonal neuropathy with sensory ganglionopathy. A contrast-enhanced CT scan of the thorax and abdomen revealed no metastatic lesion. The paraneoplastic profile (serum and CSF) revealed high titers for anti-Ma2 antibody in serum, confirming it to be paraneoplastic myeloneuropathy. The patient and her caregivers refused any further treatment and took the patient home against medical advice (it is not a rare occurrence in Indian rural setups).

Fig. 7.

MRI of the cervical spine reveals a longitudinally extensive hyperintense lesion on T2-weighted and T2-STIR (A and B, sagittal, and C, axial) images extending from C4 to D1 level suggestive of non-compressive myelopathy.

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A 36-year-old previously healthy female presented with insidious onset slowly progressive gait unsteadiness for the last 10–12 years. She also noticed slowly progressive bilateral upper limb tremulousness and clumsiness for the last 2 years. She also complained of slowly increasing stiffness, tingling, and paresthesias over both lower limbs. Family history was strongly positive for ataxic disorders. The general examination revealed nothing remarkable except bilateral pes cavus, mild scoliosis, and truncal titubation. Neurological examination revealed normal cognitive abilities, speech, and cranial nerves except saccadic intrusions into smooth pursuit. Motor strength examinations were normal both in the upper and lower limbs. However, the tone was increased in the lower limbs. She also had severely impaired joint position and vibration and decreased pin-prick sensations in the distal lower limbs. All the deep tendon reflexes were brisk except for absent ankle jerks; Babinski's sign was present bilaterally. Nerve conduction studies revealed an acquired sensorimotor axonal polyneuropathy. MRI of the brain was normal, but an MRI of the spinal cord revealed atrophy of the spinal cord. Genetic analysis revealed expansions in both FXN alleles, and she was diagnosed with Friedreich ataxia.