Search PubMedSearch

Biomedical subjects

C D Rittey

Publications and source records attributed to C D Rittey.

4 recordsLinked to original sources

Juvenile neuronal ceroid-lipofuscinosis: developmental progress after supplementation with polyunsaturated fatty acids.

Six patients with juvenile neuronal ceroid-lipofuscinosis (NCL) who were demonstrated to have abnormally low levels of membrane phospholipids were treated by dietary supplementation with polyunsaturated fatty acids (PUFAs) for periods ranging from 4 years 10 months to 7 years 3 months. Annual evaluations of intelligence and fine motor ability were undertaken while on supplementation. Mental development remained stable in most subjects throughout this period; fine motor function and vision were stable in the two youngest subjects only. These data suggest that PUFA supplementation may arrest the natural course of juvenile NCL if treatment is started early. A larger, multicenter, controlled trial is warranted.

Adolescent

Case summary: Benjamin.

Benjamin was diagnosed with Aspberger's syndrome on starting school. Prior to that, at the age of five years he presented with seizures involving deviation of the head and eyes to the right and jerking of the limbs. EEG was very abnormal with multifocal paroxysmal activity and occasional bursts of spike and slow wave activity. CT scan and MRI were normal and investigations failed to identify any underlying aetiology for the seizures. Carbamazepine was initially successful in controlling the seizures but improvement was not sustained despite maximal tolerated doses. A similar course of events was seen with sodium valproate, initially in combination with ethosuximide (for emergent tonic-clonic and absence seizures), then with vigabatrin (which unmasked myoclonic seizures), clonazepam and finally lamotrigine. The EEG remained abnormal even during periods of improved seizure control and there was no improvement in his Aspberger's syndrome. His epilepsy syndrome has not been classified. Subsequent treatment options include lamotrigine monotherapy.

Anticonvulsants

Melatonin state in Mendenhall's syndrome.

We report a case of Mendenhall's syndrome that presented as hypoglycaemia. The clinical and biochemical features of the case are described including, for the first time, studies of melatonin state showing raised melatonin metabolite excretion in the urine as might be expected with disordered pineal function.

Diabetes Mellitus, Type 1