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[Intracranial hypotension].

A CLINICAL DIAGNOSIS: Headache which appears in the upright position and subsides in the reclining position is suggestive of intracranial hypotension Brain magnetic resonance imaging can eliminate an intracranial tumoral process. In most cases, contrast images after gadolinium injection show a diffuse hypersignal of all the meninges including the falx cerebri and the tentorium cerebelli. SPONTANEOUS OR SECONDARY: This clinical presentation is sufficient for diagnosis. Occurring after a recent neurosurgical procedure, the intracranial hypotension is termed secondary. Inversely, is no known cause can be identified, the condition is termed spontaneous. CEREBROSPINAL FLUID: If the clinical manifestations are somewhat doubtful, a spinal tap can reveal the very low pressure of the cerebrospinal fluid (CSF) although it is advisable to avoid further loss of fluid. CSF LEAK: It is generally accepted that intracranial hypotension results from leakages of CSF through a breach in the dura mater caused by untreated trauma to a particularly fragile area due to a meningocele or an arachnoid cyst for example. Occasionally, the CSF leak can be evidenced with isotopic labeling used to visualize the breach and guide therapy. TREATMENT: By analogy with the spinal tap syndrome, a blood-patch with autologous blood is usually proposed as first line medical treatment. Prognosis is generally good.

Diagnosis, Differential↗

[Joubert syndrome: a report of 5 cases].

OBJECTIVE: To review clinical features, radiological findings and prognosis in Joubert syndrome. MATERIAL AND METHODS: We report 5 children (3 male and 2 female) with the diagnosis of Joubert syndrome by clinical and radiological findings. They were diagnosed in the first year of life, in the Hospital Infantil La Paz (Madrid, Spain), from 1971 to 1996. Three patients have already been published, and here, we report two new cases. RESULTS: Partial absence of the cerebellar vermis, hypotonia and developmental delay were seen in all patients. Other cardinal findings were episodic hyperpnoea (5/5) with periods of apnoea (2/5), abnormal eye movements (2/5) and strabismus (3/5), tongue protrusion (2/5), seizures (1/5), hemifacial spasms (1/5) and occipital meningocele (2/5). Clinical manifestations were first noticed soon after birth. Two patients died in the first 5 years of life, and the rest of the cases actually show severe mental retardation. CONCLUSIONS: Joubert syndrome is a rare and probably underdiagnosed syndrome with bad prognosis. This inherited condition is characterized by agenesis of the cerebellar vermis, mental retardation, hypotonia, episodic hyperpnoea and abnormal eye movements. Additional manifestations have been reported since the original cases were described.

Apnea↗

[Congenital anomalies reflected in materials of obstetric ward of the Hospital of Internal Affairs in Warsaw during the period 1988-96].

A congenital anomaly consists of a departure from the normal anatomic architecture of an organ or system. Malformations can be considered as the result of a developmental arrest of the primordium (incomplete morphogenesis), redundant morphogenesis, or aberrant morphogenesis. Congenital malformations establish more and more percentage of reason of incidence and morbidity in newborn and young children. It is also great family and social problem. The subjects studied were all cases of abnormality identified pre- or postnatally. The commonest system malformations were urogenitally tract, central nervous system, skeleton, craniofacial, heart and skin abnormalities. The most frequent single anomalies were--hypospadias, cleft lip/cleft palate, anomalies of hands and feet, vertebral malformations, meningocele, heart abnormalities and Down syndrome.

Adult↗

Neurofibromatosis and interstitial lung disease.

The literature suggests that 10% to 20% of adult patients with neurofibromatosis have associated interstitial lung disease. Characteristics of such involvement, as present in the case reported herein, include bilateral lower lobe fibrosis and may include bullous and cystic changes in advanced cases. In addition to pulmonary fibrosis, neurofibromatosis may have other intrathoracic associations; including "dumbbell" neurofibromas, intercostal neurofibromas, and intrathoracic meningoceles.

Humans↗