Electroencephalography, Doppler vascular scanning, and single photon emission computed tomography in a child with hydranencephaly and intractable seizures.

In a child with hydranencephaly and refractory seizures, the electroencephalogram showed a flat isoelectric pattern with no significant slow waves or epileptiform activity; cranial computed tomography, magnetic resonance imaging, Doppler vascular scanning, and single photon emission computed tomography (SPECT) were done to define the pathogenesis of the seizures. The investigations were suggestive of a lack of significant cortical, subcortical, or thalamic structures with hypoplasia of the vermis and cerebellum. SPECT showed little activity in the base of the brain and cerebellum. The cause of the seizures remained unclear in spite of the investigations.

[Osseous abnormalities and CT findings in Stueve-Wiedemann-Syndrome (SWS)]. / Ossäre Manifestationen und CT-Befunde bei der seltenen Skelettdysplasie Stueve-Wiedemann (SWS).

PURPOSE: Analysis of typical conventional radiological and CT findings in our group of patients with the rare skeletal dysplasia Stueve-Wiedemann-Syndrome (SWS) and comparison with published data. MATERIALS AND METHODS: In 16 newborns with clinically dysmorphic features, dwarfism, and bowed limbs, radiographs of the chest and skeleton were obtained for classification of the underlying skeletal dysplasia. For the first time, computed tomography was performed for further investigation of midface hypoplasia. The early diagnosis of SWS could be made by correlation of the radiological and clinical findings. For evaluation of progression, follow-up radiological examinations of the skeleton were performed in four children surviving infancy. RESULTS: Clinically, the newborns with SWS showed dwarfism, midface hypoplasia, bowed extremities with contractures and had severe problems with respiration, feeding, and swallowing as well as episodes of hyperthermia. Skeletal radiographs revealed bowing of the long tubular bones, most pronounced at the lower extremities. Additional findings were internal triangular cortical diaphyseal thickening at the concave side of the bowing, wide metaphyses with abnormal trabecular pattern and radiolucencies. Four patients survived infancy. Clinically, they suffered from recurrent aspiration pneumonia and recurrent episodes of hyperthermia as well as form cutaneous and mucosal infections. The follow-up radiographs showed progressive bowing of the long tubular bones as well as progressive metaphyseal decalcification. CONCLUSIONS: Skeletal abnormalities in SWS are so characteristic that an early post partum diagnosis can be made. However, a close cooperation between radiologists, clinicians, and geneticists is required for correlation of clinical and radiological findings. The few cases that survive infancy have progressing orthopaedic problems.