A 12-year-old boy with severe back pain and blast-like cells in the CSF

Abnormal Somatosensory Evoked Potentials Indicate Compressive Cervical Myelopathy in Mucopolysaccharidoses

Compressive myelopathy at the cranio-cervical junction is a complication of mucopolysaccharidoses (MPS). To detect cervical myelopathy we recorded median and posterior tibial nerve SEPs in 15 patients aged 2.4 - 33.4 years (median 8.8 years) with MPS I-S (n = 3), MPS IVA (n = 8) and MPS VI (n = 4). In addition to the cortical waveforms we recorded the subcortical median nerve SEPs N13b and P13 generated near the cranio-cervical junction and the lemniscal P30 after posterior tibial nerve stimulation. MRI studies in 13 subjects revealed spinal cord compression at the cranio-cervical junction in 10 patients; 5 patients had an increased signal intensity on the T2-weighted initial MRI indicating…

A sphenoorbital encephalocele — clinical, radiological, and morphological findings

We report here on congenital sphenoorbital encephalocele which could not be disclosed by computed tomography including contrast medium application or by orbital sonography. Surgery and histological examination were necessary to establish correct the diagnosis.

Confluens-sinuum-Obstruktion durch Langerhanszell-Histiozytose

Die Langerhanszell-Histiozytose, bis vor wenigen Jahren als Histiozytose X bezeichnet, umfast 3 verschiedene Syndrome, namlich das eosinophile Granulom, die Hand-Schuller-Christian-Krankheit sowie die Abt-Letterer-Siwe-Krankheit, und gehort zu den seltenen Erkrankungen des Kindesalters. Wir berichten uber einen 10 jahrigen Jungen, der mit einer Schwellung am Hinterkopf und beginnender Hirndrucksymptomatik zur stationaren Aufnahme kam. Klinik, konventionelle radiologische Diagnostik und Computertomographie liesen differentialdiagnostisch ein eosinophiles Granulom als wahrscheinlich erscheinen. MRT und MRT-Angiographie zeigten jedoch die akute Bedrohung des Patienten durch das intrakraniale W…

Fatal Late Vitamin K-Deficiency Bleeding After Oral Vitamin K Prophylaxis Secondary to Unrecognized Bile Duct Paucity

Anderson-Fabry disease: clinical manifestations of disease in female heterozygotes.

Anderson-Fabry disease is a rare, X-chromosomal lipid storage disorder caused by a deficiency of lysosomal alpha-galactosidase A. Clinical manifestations of Anderson-Fabry disease include excruciating pain in the extremities (acroparaesthesia), skin vessel ectasia (angiokeratoma), corneal and lenticular opacity, cardiovascular disease, stroke and renal failure, only renal failure being a frequent cause of death. Heterozygote female carriers have often been reported as being asymptomatic or having an attenuated form of the disease. To evaluate the spectrum of clinical signs in heterozygotes, a comprehensive clinical examination was performed on 20 carriers of Anderson-Fabry disease. This rev…

Cerebral spinal fluid flow, venous drainage and spinal cord compression in achondroplastic children: impact of magnetic resonance findings for decompressive surgery at the cranio-cervical junction

In order to investigate the diagnostic properties of MRI of the brain and spine in achondroplastic children with regard to decompressive surgery, 25 patients were examined by conventional morphological and by "functional" imaging of CSF flow and magnetic resonance angiography (MRA) of the veins and sinuses at the cranial base following a special protocol. The results were compared to those from age-matched controls and were correlated with each other and retrospectively with the neurological findings. Measurements of distances and angulations at the cranio-cervical junction (CCJ) from MR scans showed similar values to those from conventional radiographs and CTs and thus can be used without …

Clinical aspects and prognosis of ependymoma in infants and children

Thirty-two patients (22 boys and 10 girls) with a histologically confirmed diagnosis of ependymoma were treated between 1972 and 1999. A total macroscopic resection was achieved in 16 of these patients, whereas 15 resections were classified by the surgeon as subtotal. In 1 patient a ventriculostomy was created as part of a palliative strategy. All children over 3 years old were treated with postoperative radiotherapy. Chemotherapy consisted of procarbazine, ifosfamide, etoposide, methotrexate, cisplatin and cytosine arabinoside. There was 1 perioperative death. Twenty children developed a relapse of disease within 2 months to 13 years and 1 month after the initial therapy. A maximal number …

Orbital rhabdomyosarcoma in childhood

Background: Rhabdomyosarcoma is the most common malignant orbital tumor in children. Treatment modalities (individualized therapy or study protocol) have been changed radically. Surgery was supplemented by radiation therapy and chemotherapy. The objective of our retrospective analysis was to define the prognosis in correlation to changes of treatment in an unselected patient group of a single institution. Patients and methods: Between 1954 and 1995, 18 patients (age at presentation 1 month to 17 years, 11 male and 7 females) with orbital rhabdomyosarcoma were diagnosed and treated at our institution. Results: The 5-year survival rate was 76 %. Primary exenteration was replaced by tumor rese…

Clinical and neuroradiological findings in classic infantile and late-onset globoid-cell leukodystrophy (Krabbe disease)

In the present study the clinical course and imaging of early and late-onset forms of Krabbe disease are analyzed. We report on 11 patients with a biochemical diagnosis of galactosyl ceramide β-galactoside deficiency. Two presented as the classic infantile form and died within the second year of life. In 9 children the first clinical signs, such as gait difficulties and visual failure, started after age 2 years. All these patients developed slow regression of motor and mental capacities, and most of them died within their first decade. In patients of both groups computed tomography (CT) and magnetic resonance imaging (MRI) were performed. In the late-onset form, hypodensities of the central…

Early diffuse leptomeningeal primitive neuroectodermal tumors can escape detection by magnetic resonance imaging.

Primitive neuroectodermal tumors are easily detected by neuroradiologic imaging, as a rule. We report on two patients with early diffuse leptomeningeal primitive neuroectodermal tumors which escaped detection by contrast-enhanced magnetic resonance imaging.

Abnormal subcortical somatosensory evoked potentials indicate high cervical myelopathy in achondroplasia

Children with achondroplasia may have high cervical myelopathy due to stenosis of the cranio-cervical junction resulting in neurological disability and an increased rate of sudden death. To detect myelopathy we recorded somatosensory evoked potentials (SEPs) after median nerve stimulation in 30 patients with achondroplasia aged 13 months to 18 years (mean 6 years). In addition to the conventional technique of recording the cortical N20 and the central conduction time (CCT), we employed a noncephalic reference electrode recording the subcortical waveforms N13b and P13, generated near the cranio-cervical junction. The findings were related to the clinical status and MRI results. Eighteen pati…

Battered child syndrome: cerebral ultrasound and CT findings after vigorous shaking.

Child abuse by whiplash-shaking can lead to severe cerebral damage, neurological defects and mental retardation. Cerebral damage has been found with and without external evidence of head injury. We report the sonographic findings in two children after traumatization due to repetitive vigorous whiplash shaking. Cerebral sonography revealed cerebral edema at admission or within 48 hours thereafter. Follow-up studies demonstrated development of marked brain atrophy in both cases. The sonographic findings were confirmed by cranial computerized tomography. Doppler sonography was used to monitor cerebral perfusion by measuring intracranial blood flow. The clinical history of the patients demonstr…