Leber's 'plus'.

We report severe coenzyme Q10 deficiency of muscle in a 4-year-old boy presenting with progressive muscle weakness, seizures, cerebellar syndrome, and a raised cerebro-spinal fluid lactate concentration. State-3 respiratory rates of muscle mitochondria with glutamate, pyruvate, palmitoylcarnitine, and succinate as respiratory substrates were markedly reduced, whereas ascorbate/N,N,N',N'-tetramethyl-p-phenylenediamine were oxidized normally. The activities of complexes I, II, III and IV of the electron transport chain were normal, but the activities of complexes I+III and II+III, both systems requiring coenzyme Q10 as an electron carrier, were dramatically decreased. These results suggested a defect in the mitochondrial coenzyme Q10 content. This was confirmed by the direct assessment of coenzyme Q10 level by high-performance liquid chromatography in patient's muscle homogenate and isolated mitochondria, revealing levels of 16% and 6% of the control values, respectively. We did not find any impairment of the respiratory chain either in a lymphoblastoid cell line or in skin cultured fibroblasts from the patient, suggesting that the coenzyme Q10 depletion was tissue-specific. This is a new case of a muscle deficiency of mitochondrial coenzyme Q in a patient suffering from an encephalomyopathy.

Cerebellar Ataxia↗

PubMed1998

Complicated varicella zoster infection in 8 paediatric patients and review of literature.

BACKGROUND: This is a study of complicated varicella zoster infection in paediatric patients. AIM: To find out the number of patients with such complications, the types of complications and their outcome. METHOD: This involved a retrospective review of the case records of 8 patients who presented to our unit over a 12-month period (Jan-Dec 96). All patients were previously well without any underlying immunodeficiency. Varicella zoster (VZ) infection was confirmed by VZ immunofluorescence from vesicular fluid. RESULTS: CMS complications accounted for 6 of the 8 cases. Of these, 3 presented with encephalitis, 2 with cerebella ataxia and 1 with aseptic meningitis and cerebella ataxia. Of the non-CNS cases, 1 presented with glomerulonephritis with superimposed staphylococcus infection of skin ulcers; the other had disseminated VZ infection with haemorrhagic vesicles, hepatitis, ileus with mesenteric adenitis and disseminated intravascular coagulation. OUTCOME: The patient with disseminated VZ infection and multiple organ involvement died 5 days after a stormy course. One patient with encephalitis who had status epilepticus for 2 hours had behavioural problems and poor memory. The remaining 6 patients had no sequelae. CONCLUSION: VZ infection usually a minor illness, can result in serious life-threatening complications in previously healthy patients.

Cerebellar Ataxia↗