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Biomedical subjects

R P Chand

Publications and source records attributed to R P Chand.

At least 19 recordsLinked to original sources

Severe autosomal recessive rippling muscle disease.

Rippling muscle disease (RMD) has previously been reported as a skeletal myopathy that was attributed to a defect in the sarcomere. Here we report a new form of RMD that is more severe, characterized by fatal arrhythmic cardiomyopathy and delayed bone age. Mortality has previously not been associated with RMD. With this report we hope to raise awareness that a subset of patients with this clinical entity are predisposed to severe cardiac disease.

Adolescent↗

Pathological laughter following intravenous sodium valproate.

BACKGROUND: Pathological laughter can be a sign of epilepsy, psychiatric illness, effect of toxins or psychotropic drugs or of structural brain disease. METHOD: Case Studies. RESULT: Two patients developed inappropriate uncontrollable laughter following intravenous sodium valproate for treatment of epilepsy. CONCLUSION: Pathological laughter can be a side effect of intravenous sodium valproate.

Adolescent↗

Clinical and radiological features of juvenile onset olivopontocerebellar atrophy.

Olivopontocerebellar atrophy (OPCA) is uncommon in childhood. We encountered 17 consecutive patients with clinical and radiological features of OPCA with a juvenile onset (mean onset age 8.2 years). These patients were heterogenous on clinical and genetic profiles, but formed three major groups. The largest group consisted of eight patients with OPCA and pigmentary retinal degeneration. The other major groups seen were OPCAs with peripheral neuropathy and OPCA with pyramidal features. Other clinical features seen were extrapyramidal signs and lower cranial nerve palsies. The CT scan showed varying degrees of cerebellar and pontine atrophy. A more precise resolution of the underlying cause of these disorders requires characterization at the genetic and molecular level and awaits further study.

Adolescent↗

CT features of olivopontocerebellar atrophy in children.

Between 1990 and 1992, 14 children were seen in whom a clinical diagnosis of olivopontocerebellar atrophy (OPCA) had been made. The majority of patients presented with cerebellar ataxia and hypotonia. Five children had a family history of a similar illness in first-degree relatives. All cases had undergone clinical and neurologic examinations, routine laboratory tests and cranial CT. CT features were graded to quantitate the degree of atrophy in each cerebellar hemisphere, vermis and brain stem. All patients had varying degrees of atrophic changes of cerebellum, brain stem and cerebrum. These CT features appear to be distinctive enough to enable the diagnosis of OPCA to be made.

Adolescent↗

Rotatory seizures of frontal lobe origin.

We report a patient with true rotatory seizures. The CT scan showed a right frontal calcified lesion and the EEG showed focal epileptiform discharges over the right frontal region. The seizures responded well to phenytoin therapy.

Adult↗

Childhood deafness in Malaysia.

One hundred and fifty-five children with childhood deafness were examined over a period of 4 years in order to assess the aetiology of hearing disorder. In 21 (13%) children, deafness was a sequel of meningitis. Perinatal pathology accounted for 34 (22%) cases. The aetiology of deafness was unknown in 44 (28.4%) children. The percentage of unknown causes can be reduced if the deafness is detected early. Hearing loss was diagnosed only in 30 (19%) children by the age of 2 years. The early detection of deafness can be achieved by screening the high risk infants and educating the general practitioners and health assistants.

Child↗

Cerebral infarction in juvenile rheumatoid arthritis.

Cerebral involvement associated with juvenile rheumatoid arthritis is rare. It is not influenced by treatment and the presentation can be varied. We describe a case of cerebral infarction secondary to vasculitis in a child with juvenile rheumatoid arthritis.

Arthritis, Juvenile↗

Epilepsy in infancy.

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Electroencephalography↗

The blink reflex and somatosensory evoked potential in optic neuritis in south India.

Optic Neuritis (ON) proceeds to multiple sclerosis (MS) in a considerable number of patients. The blink reflex (BR) and somatosensory evoked potential (SSEP) are useful non-invasive tests that can detect silent lesions in the central nervous system in patients with clinically suspect MS. In the present study, the BR and SSEP were done in 20 healthy controls and 20 patients with ON. Abnormalities of the SSEP were seen in 20%, and of the BR in 30% of the patients with ON. On combining the results of SSEP and BR studies, 45% of the ON patients were seen to have abnormalities. Over a short period of follow-up, 2 of the 20 ON patients developed clinical MS and both of them had had abnormalities of the BR. These findings suggest that ON proceeding to MS in India may be more common than suspected at present.

Adolescent↗

Eating epilepsy.

The clinical and EEG profiles of 13 cases of eating epilepsy are described. Temporal lobe epilepsy (TLE) formed the seizure type in 12 cases. In all but one case, the seizures were precipitated only by eating a heavy meal. In ten cases EEG showed interictal seizure discharges. EEG recordings were obtained from 12 patients during and after eating. In two patients clinical attacks (TLE) could be induced by eating in the laboratory. There was a good response to conventional anticonvulsants in only 3 cases. Alteration of eating habits helped in controlling reflex seizures in 2 cases. Various mechanisms of reflex precipitation of seizures by eating are discussed.

Adolescent↗

Reversible parasympathetic dysautonomia following stinging attributed to the box jelly fish (Chironex fleckeri).

Following a box jelly fish sting, a 52 year old Chinese fisherman developed acute abdominal distension, inability to pass urine and failure of erection. Examination revealed gaseous abdominal distension and a distended urinary bladder. Absence of lachrimation and absence of changes in the R-R interval in the ECG during breathing and carotid sinus massage gave further evidence of parasympathetic dysautonomia. The patient made a complete recovery. The case highlights the occurrence of reversible parasympathetic dysautonomia following box jelly fish sting.

Autonomic Nervous System Diseases↗