Interstitial deletion in 3q in a patient with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) and microcephaly, mild mental retardation and growth delay: clinical report and review of the literature.

We present a boy with blepharophimosis, ptosis, epicanthus inversus, microcephaly, mild mental retardation, and growth delay. Chromosomal analysis revealed a male karyotype with an interstitial deletion in the long arm of chromosome 3. DNA-analysis showed that the deletion is of maternal origin and encompasses the region between markers D3S1535 and D3S1593. The deletion contains not only the FOXL2 gene, but also the gene encoding ataxia-telangiectasia and Rad3-related protein (ATR). Mutations in FOXL2 have been shown to cause blepharophimosis-ptosis-epicanthus inversus syndrome (BPES). ATR has been identified as a candidate gene for Seckel syndrome, an autosomal recessive syndrome that comprises growth retardation, microcephaly, and mental retardation. We hypothesize that our patient has a contiguous gene syndrome and that the non-BPES-associated abnormalities (microcephaly, mild mental retardation, and growth delay) are the result of the deletion of the maternal ATR gene. However, it has not yet been excluded that haploinsufficiency of some other gene in this region plays a role.

Hospital admissions for rotavirus infection in the Netherlands.

The development of a vaccine against rotavirus (RV) infection has necessitated the estimation of the number of hospitalizations for RV infection in the Netherlands. During 1998, pediatricians have reported all hospitalizations with RV infection and supplied information on the duration of admission, clinical picture, indication for admission, and treatment. Also, data from the National Disease Registry on hospitalizations for gastroenteritis (International Classification of Disease codes 006.6. 006.8, 009, and 558.9) and laboratory surveillance data for 1996-1998 were combined in a linear regression model to indirectly estimate the incidence and proportion of hospitalizations attributable to RV infection. The direct estimate of admissions for RV infection in children aged <5 years was 0.9 per 1000, and the indirect estimate was 2.7 per 1000 in 1998 (1996, 3.4; 1997, 1.6). The proportion of hospitalizations for gastroenteritis attributable to RV ranged from 32% in 1997 to 58% in 1996.

[An infant with a fatal cerebral hemorrhage due to vitamin K deficiency]. / Een zuigeling met een fatale hersenbloeding door deficiëntie van vitamine K.

A 7-week old, male infant died from an intracerebral haemorrhage due to vitamin K deficiency. He had been exclusively breast-fed. Directly after birth no vitamin K was administered. From day 10 a daily dose of 25 microgram vitamin K was given orally. At post mortem a mild cholestasis was found which may have been an additional factor contributing to late vitamin K deficiency.

Leigh syndrome associated with a deficiency of the pyruvate dehydrogenase complex: results of treatment with a ketogenic diet.

A one-year-old boy suffering from intermittent lactic acidosis, muscular hypotonia, horizontal gaze paralysis and spasticity in both legs had low activity of the pyruvate dehydrogenase complex associated with low amounts of immunoreactive E 1 alpha and E 1 beta. Leigh syndrome was diagnosed on the basis of the clinical and biochemical abnormalities and the typical lesions observed on MRI of the brain. Treatment with a ketogenic diet was associated with clinical and biochemical amelioration. A striking improvement of the cerebral lesions was observed by neuro-imaging.

[Attacks of apnea in an infant with achondroplasia]. / Apnoe-aanvallen bij een zuigeling met achondroplasie.

Infants and children with achondroplasia are at increased risk of sudden death because of apneic attacks caused by compression of the medulla oblongata or spinal cord by a constricted foramen magnum or narrow upper cervical spinal canal. This history of an infant with achondroplasia is discussed. As a result of apneic attacks she developed severe brain damage. Cervicomedullary compression was revealed at CT-scan and NMRI of the basicranium and upper cervical canal, and confirmed at decompressive surgery. Early symptoms can be clues to the existence of cervicomedullary compression. These clues are indication for further investigations. Decompressive surgery has good results when performed at an early stage. Knowledge of the signs and symptoms of cervicomedullary compression and of factors which increase the risk of complications are important in the management of achondroplastic patients.

Pseudotumor cerebri associated with hypovitaminosis A and hyperthyroidism.

Pseudotumor cerebri, or benign intracranial hypertension, is relatively rare in children. A 12-year-old girl with Hashimoto hyperthyroidism and hypovitaminosis A is described, who fulfilled the diagnostic criteria for pseudotumor cerebri.