[Pseudohypoparathyroidism revealed by Fahr syndrome]. / Un syndrome de Fahr révélateur d'une pseudohypoparathyroïdie.

Fahr syndrome is defined by the presence of striopallidal notched bilateral and symmetric calcifications at the base of the skull. We report an observation of a 12-year-old girl who presented gait impairment, seizures, somnolence and aphasia. Brain computed tomodensitometry identified intracranial calcifications. The tests demonstrated pseudohypoparathyroidism.

[Aplasia cutis congenita of the scalp (5 observations)]. / Aplasia cutis congenita du vertex (5 observations).

UNLABELLED: Aplasia cutis congenita (ACC) is an uncommon congenital malformation. It is characterized by defects of the skin that occur most frequently on the scalp along the midline, but can also be localized on the trunk, face and limbs, usually with a symmetrical distribution. When it is localized in the skull, it can extend to the dura mater, with only the thin pia mater to protect the brain. PATIENTS AND METHODS: We report a retrospective study during a period of 10 years and we report 5 cases of ACCV hospitalized in the pediatric service in CHU Hédi Chaker and in maxillo-facial surgery service in CHU Habib Bourguiba, Sfax. We studied the epidemiologic, clinical, and therapeutic aspects in our patients. RESULTS: The average age at the admission was 5 days (2-8 days). A consanguinity was found in 2 cases. The clinical examination revealed cutaneous and osseous structures aplasia located in frontoparietal zone in 3 patients and in parieto-occipital zone in a patient. A hypoplasia of the toes was noted in 3 cases and a hypoplasia of the 3rd finger of the 2 hands in a case. Plain X-ray skull (3 cases) showed the osseous defect in all the cases. The cerebral IRM (2 cases) showed osseous and cutaneous defect in two cases and a lipome of the corpus callosum in one patient. A surgical repair using a cutaneous graft was performed for 3 patients. A patient died on the 16th day of life from a haemorrhage of the longitudinal sinus. The evolution was favourable in 4 cases with a cicatrisation of good quality but with subsequent alopecia. CONCLUSION: ACC of the scalp is a rare and often sporadic affection. Our experience confirms that fatal bleeding from the longitudinal sinus can occur during the 1st weeks of life.

[Moyamoya and Down syndrome: about 2 cases]. / Syndrome de Moyamoya et trisomie 21 : à propos de 2 cas.

Moyamoya syndrome has rarely been reported in association with Down syndrome. We report on 2 cases in 3-year-old and 6-year-old female children with Down syndrome, who presented with neurological deficit. Imaging (magnetic-resonance angiography and digital-subtraction angiography) revealed the classical Moyamoya pattern. The neurological deficits persisted in both cases. One patient has developed epilepsy.

[Weaning from invasive mechanical ventilation in pediatric patients (excluding premature neonates)]. / Le sevrage de la ventilation mécanique invasive en réanimation pédiatrique (à l'exclusion des prématurés).

The process of weaning from mechanical ventilation (WMV) is the same in children as in adults. In the pediatric literature, weaning failure rate ranges from 1.4 to 34%. So far, no indices of weaning success have been demonstrated to be sufficiently accurate. The criteria for assessing readiness to wean, which must be screened daily, have neither been validated nor adapted to the pediatric population. The spontaneous breathing test (SBT), the reference screening test for weaning, precedes extubation; it can be achieved with pressure support ventilation or spontaneous breathing (T piece or canopy or flow-inflating bag). A standardized weaning protocol (which can be computer driven) was used in only three pediatric studies and the impact on shortening the duration of mechanical ventilation has not yet been demonstrated. It should be paired with a sedative interruption protocol. Weaning criteria, SBT criteria, and/or protocol tolerance are guides, but clinicians must individualize decisions to use these criteria. The use of noninvasive ventilation is increasing and its place in weaning protocols for children needs to be determined; it might modify the definitions of weaning failure and weaning success in the future.