[Failure to thrive and psychomotor regression revealing vitamin B12 deficiency in 3 infants]. / Stagnation pondérale et régression psychomotrice révélant une carence en vitamine B12 chez 3 nourrissons.

The newborn's vitamin B12 storage exclusively comes from placenta transfer, later from animal food. We relate 3 observations of infants (3-11-13 months) with failure to thrive, anorexia, vomiting and for the two olders refusal of weaning, associated with psychomotricity regression and hypotony. Blood cell count showed a macrocytosis without anemia (case 2-3) and a severe microcytic anemia for the first case caused by a mild alpha-thalassemia, with megaloblastic bone marrow. Vitamin B12 levels were very low associated with increased methylmalonic acid and homocysteine serum levels which confirm the diagnostic . Cerebral imaging showed diffuse cortical atrophy. Cobalamin deficiency was caused by strict vegetarian diets mothers of breastfed infants (cases 2-3) and for younger by mother's unrecognized pernicious anemia. 3 mothers had no anemia and normal B12 's levels at diagnosis. Vitamin B12 supply lead to a rapid clinical and hematologic improvement. In two cases, neurologic recovery was incomplete. About one hundred case of B12 deficiency 's infant are reported, 2/3 are breast-fed by vegetarian mothers, and 1/4 have mothers with pernicious anemia. The failure to thrive is due to anorexia, refusal of weaning and partial villous atrophy. Neurologic manifestations are secondary to cerebral disorders, sometimes revealed by an exposure to anesthetic nitrous oxyd. The macrocytic anemia is inconstant. The etiologic research of developmental delay in an infant may include vitamin B12's deficiency, even if there is no haematologic signs, especially if breast-fedding 's mothers is vegetarian.

Epsilon sarcoglycan mutations and phenotype in French patients with myoclonic syndromes.

BACKGROUND: Myoclonus dystonia syndrome (MDS) is an autosomal dominant movement disorder caused by mutations in the epsilon-sarcoglycan gene (SGCE) on chromosome 7q21. METHODS: We have screened for SGCE mutations in index cases from 76 French patients with myoclonic syndromes, including myoclonus dystonia (M-D), essential myoclonus (E-M), primary myoclonic dystonia, generalised dystonia, dystonia with tremor, and benign hereditary chorea. All coding exons of the SGCE gene were analysed. The DYT1 mutation was also tested. RESULTS: Sixteen index cases had SGCE mutations while one case with primary myoclonic dystonia carried the DYT1 mutation. Thirteen different mutations were found: three nonsense mutations, three missense mutations, three splice site mutations, three deletions, and one insertion. Eleven of the SGCE index cases had M-D and five E-M. No SGCE mutations were detected in patients with other phenotypes. The total number of mutation carriers in the families was 38, six of whom were asymptomatic. Penetrance was complete in paternal transmissions and null in maternal transmissions. MDS patients with SGCE mutation had a significantly earlier onset than the non-carriers. None of the patients had severe psychiatric disorders. CONCLUSION: This large cohort of index patients shows that SGCE mutations are primarily found in patients with M-D and to a lesser extent E-M, but are present in only 30% of these patients combined (M-D and E-M).

[Cognitive and socio-educational ramifications of epilepsy in the child]. / Retentissement cognitif et socio-éducatif des épilepsies de l'enfant.

Cognitive effects and psychosocial risks after childhood onset epilepsy are better known nowadays, as well as their dependency upon several causative factors. Remission of seizures does not ensure good psychosocial outcome. A specific prevention and evaluation work is always necessary, and is first a medical work. Information has a very important part. Restrictions have to be optimally adapted to seizure related risk, in order to obtain an improvement in quality of life. Neuropsychological assessments and psychopathological approach are both necessary. Neuropsychological assessment may show specific cognitive impairments related to epilepsy type and localisation or epileptic syndrome. Rehabilitation has to be suited to each child, taken into account his intellectual development as well as his behavior and relationships. Multidisciplinary teams working in coordination to teachers are an important need.

[Dwarfism, arterial hypertension and hyperkalemic acidosis corrected with thiazides. A case of type II pseudohypoaldosteronism]. / Nanisme, hypertension artérielle et acidose hyperkaliémique corrigés par les thiazidiques. Un cas de pseudohypoaldostéronisme de type II.

BACKGROUND: Type II pseudohypoaldosteronism is a rare tubulopathy defined by abnormal renal potassium excretion. CASE REPORT: A 12 1/2 year-old girl, was admitted for dwarfism. Her parents were not consanguineous and her 5 living sibs were normal. At admission, she had moderate hypertension: systolic 130-150 mmHg; diastolic 80-100 mmHg and no pubertal development. LABORATORY DATA: pH (arterial): 7.34; bicarbonates: 18-20 mEq/l; chloride: 112-120 mEq/l; potassium: 5.6-7 mEq/l; aldosterone: 200-700 pg/ml (N < 60); plasma renin activity: 0.4 ng/ml/hr (N 2.2 +/- 0.2). The bone maturation was 8 1/2 years. All the other renal function tests were normal. The titratable acidity was 22 mEq/day (N 20-40) and the ammonia excretion 15.2 mEq/l (N 44-61). The fractional excretion of potassium was 6.5% (N 11.8 +/- 1.9). This girl was given polystyrene sulfonate resin followed by hydrochlorothiazide (1 to 3 mg/kg/day). There was a subsequent improvement in all data, a growth spurt and pubertal development. CONCLUSION: This is the fifth case of type II pseudohypoaldosteronism reported in childhood and the first one with hypertension. The beneficial effect of hydrochlorothiazide is underlined.

[Study of risk factors for recurrence in severe life-threatening conditions in infants]. / Etude des facteurs de risques de récidives dans les malaises graves du nourrisson.

In a prospective study, 180 infants, mean age 2-6 months, hospitalized for apparent life threatening events between October 1985 and September 1988 (for 7,261 infants admitted into the pediatric unit during the same period), were submitted to the following investigations: careful anamnesis, complete clinical examination, systematic paraclinical investigations (standard biological studies, infectious and metabolic tests, investigations for gastro esophageal reflux (GER) and vagal hyper-reflectivity (VHR), polysomnography) or adapted to the clinical situation (toxic tests, brain computed scan, laryngoscopy, etc). Pathologies were mainly functional with neuro-vegetative immaturity (67.5%): gastro esophageal reflux (49%), vagal hyper-reflectivity (8.5%) or both (10%). An incidental pathological factor (breath holding spell, convulsion, intoxication, infection) was found in 18.5% of the infants, and 14% had normal results. Diphemanil 10 mg/kg/24h corrected the VHR and Metoclopramide 1 mg/kg/24h controlled 52% of the GER. The recurrence rate of illness in the GER and VHR groups was statistically lower with efficient therapy (12% vs 48%); no recurrence occurred in other groups.