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Biomedical subjects

N Pinsard

Publications and source records attributed to N Pinsard.

At least 73 records · Page 4Linked to original sources
PubMedDate not supplied

Mevalonic aciduria in 3 siblings: a new recognizable metabolic encephalopathy.

Mevalonic aciduria, due to mevalonate kinase deficiency, is the first recognized defect in the biosynthesis of cholesterol and isoprenoids. Very few patients with this disorder have been reported. Three siblings born from consanguineous parents are reported. Several clinical signs were present in all 3 children, including failure-to-thrive, susceptibility to infections, hepatosplenomegaly, cataract, and psychomotor retardation. Dysmorphic features were more apparent in the two older siblings. Urinary organic acid analysis by gas chromatography/mass spectrometry invariably revealed a high urinary excretion rate of mevalonic acid. Mevalonate kinase activity assayed in fibroblasts was very low. Diagnosis of this very rare disease may be suspected simply on clinical evidence; it is confirmed by abnormal excretion of mevalonic acid.

Brain Diseases, Metabolic↗
PubMedDate not supplied

[A case of cerebral lipidosis with an atypical presentation (author's transl)].

The authors have reported a case of cerebral lipidosis (type Jansky-Bielschowsky) in which the presenting features appeared at the age of 2 years 10 months, and consisted of clonic seizures followed by atonic attacks and atypical absences. The association of seizures, severe mental disturbances and EEG abnormalities with an interseizure abnormality (diffuse slow waves) led to an initial misdiagnosis of the Lennox-Gastaut syndrome. The diagnosis which is suspected on the basis of clinical features (epilepsy, mental deterioration, pyramidal features), EEG signs (spikes on photic stimulation at low frequency or isolated) and ophthalmological investigations (ERG reduced response, abnormal VERs) was eventually made by rectal biopsy.

Cerebral Cortex↗