Craniosynostosis and fetal exposure to sodium valproate.

OBJECT: Fetal valproate syndrome affects one in 10 children born to mothers who ingest sodium valproate regularly during pregnancy. It has been described as producing a combination of typical dysmorphic features and major organ system anomalies. Trigonocephaly is caused by premature fusion of the metopic suture and has not previously been described as a typical feature of the syndrome. The authors reviewed the cases of 2,220 children with craniosynostosis to examine the effect of maternal sodium valproate use on the fetus. METHODS: Case files of all 2,220 children were reviewed. The type and severity of each patient's craniosynostosis was assessed. Information about maternal health and medication use was obtained, and family interviews were conducted. Children underwent mental development assessment performed using standard tests both pre- and postoperatively. Detailed maternal health information was obtained in 1,676 cases. Of these, 17 mothers were found to have undergone regular treatment with sodium valproate monotherapy at the time of their pregnancies. No other antiepileptic medical regimen was found. All 17 children exhibited trigonocephaly. These patients' intelligence quotients (JQs) at the time of the most recent follow-up examination ranged from 45 to 100, with a mean of 75; IQs were significantly higher in patients who underwent surgery before reaching 6 months of age. CONCLUSIONS: Ideally any pregnancy in a woman being treated for epilepsy should be planned, and both an obstetrician and a neurologist should be consulted. In children born with fetal valproate syndrome, it is important to be aware of the possibility of metopic suture synostosis, which we believe should be considered part of the syndrome, because early surgical intervention may improve cognitive outcome.

Presentación clínica de miastenia gravis en Atención Primaria: a propósito de un caso / Clinical presentation of myasthenia gravis in Primary Health Care: a case report

La Miastenia Gravis (MG) es una de las patologías neuromusculares más frecuentes. Su origen es autoinmune, y sus síntomas principales son la debilidad y la fatigabilidad muscular, que afectan sobre todo a músculos faciales y proximales. El debút clínico de la MG puede ser muy inespecífico y mimetizar cuadros muy diversos. El médico de familia debe tener presente la MG ante cualquier síntoma cuyo origen pueda deberse a una debilidad muscular. Su pronóstico depende de un rápido diagnóstico y tratamiento. Recordamos, a través de nuestro caso esta interesante enfermedad (AU)

Neurenteric cyst mimicking pleurodynia: an unusual case of thoracic pain in a child.

This study reports an 8-year-old boy with chronic recurring thoracic pain. Magnetic resonance imaging of the spine revealed an intradural cyst at T1-T2. Despite severe compression of the spinal cord, there was no neurologic deficit. After minimally invasive cystectomy, the patient recovered completely. Histological examination established the diagnosis of a neurenteric cyst. The clinical, pathohistologic, and radiologic aspects are discussed, and the decisive role of magnetic resonance imaging in the diagnosis of intraspinal cyst is emphasized.

Effect of hypobaria on ventilatory and CO2 responses to short-term hypoxic exposure in cats.

The effect of hypobaria on the ventilatory response to short-term hypoxia was studied by comparing the respiratory mechanical and inspired CO2 ventilatory responses to hypobaric hypoxia (438 mmHg) with normobaric hypoxia (11.8% FIO2). Fifteen spontaneously breathing, anesthetized cats were divided into three groups of five: time control, normobaric hypoxia and hypobaric hypoxia. Measurements of ventilation, gas exchange, and responses to intermittent CO2 rebreathing were collected over a 4 h period. PaO2 fell to 44.5 +/- 2.7 mmHg, PaCO2 fell to 24.8 +/- 0.9, and pH rose to 7.49 +/- 0.01 in both hypoxic groups. Tidal volume did not change with respect to time or condition, but frequency and ventilation were significantly increased in the hypobaric hypoxic group. The slope of the CO2 response was unchanged over time or by condition. These results suggest that hypobaric hypoxia may alter the pattern of breathing responses to hypoxia but not the CO2-response. If metabolic rate remained constant, these results could be explained by a difference in dead space between hypoxic conditions.