Vinod Puri

Isolated vitamin E deficiency with demyelinating neuropathy

A 22‐year‐old man, with a past history of generalized tonic‐clonic seizures treated with phenobarbital, presented with spinocerebellar ataxia. The electrophysiological studies revealed a demyelinating motor‐sensory neuropathy. The serum vitamin E level was low. Sural nerve biopsy revealed loss of large myelinated fibers with evidence of remyelination. Vitamin E supplementation led to clinical and electrophysiological recovery of sensory conduction and evoked potentials. Motor nerve conduction, however, showed only partial recovery. Vitamin E deficiency leading to a demyelinating neuropathy, as in the present case, suggests that the full spectrum of the disease entity is not fully defined. Muscle Nerve, 2005

Progressive multifocal leukoencephalopathy in a patient with idiopathic CD4+T lymphocytopenia.

Progressive multifocal leukoencephalopathy (PML) is demyelinating of central nervous system caused by JC virus infection and often occurs in immunodeficient individuals. We report progressive PML in a 30-year-old male with idiopathic severely depressed CD4+T lymphocyte count. He was sero-negative for human immunodeficiency virus (HIV) infection.

Recurrent tumefactive demyelination in a child

A 13-year-old female presented with two episodes of hemiplegia and hemianopia involving opposite sides, each time associated with seizures. On both occasions, the magnetic resonance (MR) scan showed a giant demyelinating, peripherally enhancing lesion with mass effect. MR spectroscopy (MRS) was indistinguishable from a tumor. At the first episode, she had undergone tumor decompression but the histopathology revealed an acute demyelinating lesion with no evidence of tumor. Each time there was partial clinical recovery and resolution of the radiological lesion, the patient having received corticosteroids during both of the episodes. She also developed hemiballismus postoperatively which resolved on withdrawing phenytoin. It is suggested that a trial of corticosteroids be given in suspected tumefactive demyelinating lesions, although they may be indistinguishable from a tumor.

Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes unveiled by valproate.

Valproic acid (VPA) is widely used as an anti-epileptic drug. The primary mechanism of VPA toxicity is interference with mitochondrial beta-oxidation, and it can exacerbate an underlying mitochondrial cytopathy. We report a case of Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes unmasked by use of Sodium Valproate in a 12-year-old boy who presented with headache and seizures. There was precipitation of encephalopathy, myopathy, lactic acidosis, and hepatic damage within two days of valproate use, after withdrawing of which there was a remarkable clinical and biochemical recovery.

Cortical excitability in drug naive juvenile myoclonic epilepsy

PURPOSE To evaluate the effect of diurnal variability on cortical excitability using single pulse transcranial magnetic stimulation (TMS), in drug naive patients with juvenile myoclonic epilepsy (JME) and to look for any differences in cortical excitability between males and females. METHODS Thirty drug-naive patients with JME and 10 healthy controls were studied. Resting motor threshold (RMT), motor evoked potential (MEP), the duration of central motor conduction time (CMCT) and cortical silent period (CSP) were measured, twice, first early in the morning and again in the afternoon of the same day. RESULTS Diurnal variation with higher evening values of CMCT and CSP were observed in the control group. In the study group, diurnal variation in RMT, CMCT and CSP was found with higher values in the morning than in control group. However, only the raised values of CSP [mean, 110.7ms, morning and 96.44ms, evening] were of statistical significance [p=0.005, morning and 0.039, evening] as compared to controls. In the study group, males had higher values of RMT, CMCT and CSP than in females. However, the CMCT in males was lower in the evening study than in females. Further, RMT and morning CMCT was lower in females than in controls. In females, the morning CSP [mean, 100.91ms, morning versus 87.86ms, evening] was significantly prolonged [p=0.017, morning versus 0.221, evening] as compared to controls. CONCLUSION The study is suggestive of the existence of impaired supraspinal/intracortical inhibitory circuits which may account for the hyperexcitability of the motor system being prominent in the morning among drug naïve patients with JME. In this study, increased activity of cortical inhibitory networks, as evidenced by prolonged cortical silent period existed among drug naïve JME patients, but was found to be significant only in female patients. This may explain the increased seizure susceptibility in this cohort, at this time of the day and an increased manifestation of JME in females.

Myoclonus: a manifestation of neurocysticercosis.

A case of neurocysticercosis in an 11 year old female manifesting only as myoclonic seizures is reported. The diagnosis was based upon ELISA test, computed tomography, and biopsy of a subcutaneous nodule. The patient responded to anticysticerci drug treatment. Neurocysticercosis has not to our knowledge been previously reported to have presented with myoclonus.

Syringomyelia-like manifestation of subacute combined degeneration.

A 32-year-old male presented with progressive weakness and numbness of both upper limbs of one-month duration. The patient had weakness and wasting of small muscles of both hands with weak grip. Sensory system revealed graded sensory loss to pain, temperature and touch in C5 to T1 distribution and vibration and joint position sense from C5 to C8 in the both upper limbs. There was areflexia in the upper limbs while there was no motor or sensory deficit in the lower limbs. The cortical potential on stimulation of posterior tibial nerve was prolonged on both sides. On MR imaging of the cervical spine there was iso to low intense lesion which was hyperintense on T2-weighted imaging along the dorsal aspect of the cord extending from C2 to C6 level. The axial images showed involvement of the posterior column. The serum vitamin B12 level was found to be low. The patient responded to parenteral cyanocobalamine therapy and the radiological lesion subsequently resolved.

Isolated lingual involvement in Wilson's disease

Lingual involvement can occur in a variety of neurological disorders including pyramidal, extrapyramidal and lower motor neuron disorders. It can be seen in the form of tremor, bradykinesia, dystonia, atrophy and weakness of tongue movements and can clinically present as difficulty in swallowing and dysarthria which can be a source of great discomfort to the patient. We describe a patient who presented with isolated lingual involvement and was diagnosed to have Wilsonss disease. This case emphasizes the clinical variability in presentation of Wilsons disease and importance of early clinical diagnosis.

Pathological laughter associated with paroxysmal kinesigenic dyskinesia: A rare presentation of acute disseminated encephalomyelitis

A 13-year-old boy presented with recurrent episodes of sudden brief posturing of the right upper and lower limbs accompanied by transient inability to speak and a tendency to smile which would sometimes break into laughter. Awareness was retained during the attack, and there was no associated emotional abnormality. The events were precipitated by walking and occurred several times in a day. The laughter was pathological in nature, and the abnormal posturing was akin to ‘paroxysmal kinesigenic dyskinesia’ (PKD). ‘Pathological laughter or crying’ is defined as an involuntary, inappropriate, unmotivated laughter, crying or both, without any associated mood change. It can occur as a result of cerebral lesions like tumors, trauma, vascular insults, multiple sclerosis and/or degenerative disorders. It can also be a component of gelastic epilepsy which is characterized by stereotyped recurrences, presence of interictal and ictal epileptiform discharges and absence of external precipitants. In our patient, however, there was no ictal or interictal EEG correlate. Paroxysmal kinesigenic dyskinesia is characterized by intermittent, involuntary movements triggered by kinesigenic stimuli and is usually familial but can also be secondary to metabolic and structural brain disorders. Magnetic Resonance Imaging (MRI), in our case, revealed multiple T2 and FLAIR hyperintense, non-enhancing lesions in the periaqueductal gray matter, pontine and midbrain tegmentum, bilateral thalami and left lentiform nucleus suggesting a diagnosis of ‘acute disseminated encephalomyelitis’, in which this unique combination of pathological laughter and PKD has not been described so far. Magnetic Resonance Spectroscopy (MRS) confirmed a demyelinating pathology, and the patient responded well to steroids.

An Unusual Case of Myelitis with Myositis.

The Chikungunya virus belonging to genus alphavirus and family togaviridae causes an arthropod-borne self-limiting febrile illness in humans. Neurological complications are rare with myelitis being even a rarer presentation. We report here a patient with Chikungunya fever who developed acute transverse myelitis with myositis during the convalescent period.