We report on a family with two male siblings (age 2 2/12 years and 9 month) suffering from connatal hydrocephalus.

Idiopathic intracranial hypertension (IIH) is characterized by an elevated intracranial pressure of unclear aetiology. It particularly occurs in overweight, young women, but can also affect children. As a therapy weight loss, repeated spinal taps, treatment with acetazolamide or ventricular-peritoneal or lumbo-peritoneal shunts are used. The aim is to prevent neurological damage especially to the optic nerve. Within 15 years 16 patients (11 male) were treated. Diagnosis was made according to the diagnostic criteria of Friedmann und Jacobson (2002) or to the modified Dandy-criteria. Initial symptoms were headache (69%) and impaired vision (31%), in infants also a progressive macrocephaly. The mean pressure at the first spinal tap was 42cm H2O. Papilledema was found in 75% of the patients.

Occult spinal dysraphism (OSD) includes a group of spinal malformations covered by intact skin. Neurological sequelae include paresis and sensory deficits in the lower limbs, neurogenic bladder and bowel disturbances, pain and neuro-orthopaedic syndrome as well as a high risk for secondary neurological deterioration. In up to 80 % of the cases, OSD is accompanied by lumbosacral skin anomalies. In this article, an overview on the main forms of OSD and characteristic skin lesions is given, which can guide the clinician to early diagnosis and appropriate diagnostic work-up and, if necessary, therapeutic intervention.

The tuberous sclerosis complex (TSC) is an autosomal-dominant disorder which may cause harmatomatous lesions in all organs. It primarily involves the central nervous system, lungs, kidneys and skin. Typical neurological manifestations are epilepsy and mental retardation. Many patients with TSC seek medical advice with symptoms of epilepsy or dermatological manifestations.

OBJECTS:This study was conducted to investigate the frequency and type of cutaneous stigmata in different forms of occult spinal dysraphism (OSD) and their correlation to the underlying malformation.METHODS:Fourteen different forms of spinal malformations were identified in 358 operated patients with OSD. Most frequent findings (isolated or in combinations) were spinal lipoma, split cord malformation, pathologic filum terminale, dermal sinus, meningocele manqué, myelocystocele and caudal regression. Stigmata were present in 86.3% of patients, often in various combinations. Using a binary logistic regression analysis, significant correlations with distinct malformations were found for subcutaneous lipomas, skin tags, vascular nevi, pori, hairy patches, hypertrichosis, meningoceles and "cigarette burn" marks.CONCLUSIONS:Cutaneous markers in a high percentage accompany spinal malformations. Due to the correlations of different stigmata to distinct malformations, they can aid the clinician in further diagnostic and therapeutic work.

BACKGROUND:Periinsular hemispherotomy is used to treat catastrophic epilepsy in hemispheric lesions. It avoids complications of tissue resection performed in other hemispherectomy procedures. We report on the effectiveness, complications, and neurological sequelae in patients with Sturge-Weber syndrome (SWS).METHODS:Eight patients (mean age at operation 15 months, mean surveillance time 7.1 years, 5 girls) were operated between 1994 and 2000, one with additional subpial resections of the insular cortex. Preoperatively hemiparesis was evident in all patients, mental retardation in six. Charts were reviewed for pre- and perioperative data. Outcome data were collected by structured telephone interview and questionnaires.RESULTS:No severe complications occurred. Five patients with unilateral angiomatosis were seizure-free without medication, rare non-disabling seizures occurred in one. Two patients with bilateral angiomatosis had seizure reduction of > 90%. Hemiparesis deteriorated in all patients with a marked deficit of hand function and less severe deficit in the lower extremity and trunk. Seven became ambulatory and achieved community language. Mental development improved with seizure control. Six patients have learning disability, two are mentally handicapped.CONCLUSION:Periinsular hemispherotomy is a valuable treatment modality in this patient group. The sequelae of hemiparesis, hemianopsia, and developmental delay must be seen in relation to the natural course in severe SWS.

X-linked lissencephaly with abnormal genitalia (XLAG) is a rare cause of severe, neonatal onset neurological disorder in boys. The syndrome is linked to mutations in the aristaless related homeobox gene (ARX). We report the case of a male newborn with typical features of XLAG. The boy presented with severe neonatal seizures refractory to treatment with four antiepileptic drugs so far, severe muscular hypotonia associated with hypoventilation, temperature instability, endocrine disturbances and exocrine pancreatic insufficiency. He has abnormal genitalia with micropenis and bilateral cryptorchism. Cerebral ultrasound and MRI showed absence of corpus callosum and pachygyria with a posterior-to-anterior gradient. A half-sister of our patient became symptomatic with muscular hypotonia and seizures at the age of 1 month. CT of the girl revealed absence of corpus callosum.

Objective: To study types and severities of sleep-disordered breathing (SDB) in patients with myelomeningocele (MMC).

Zusammenfassung Fragestellung: Die Ursache einer konnatalen Hemiplegie bei reifgeborenen Kindern wurde in einer retrospektiven Studie untersucht. Patienten und Methode: Bei 14 Patienten im Alter von 8 Monaten bis 15 Jahren wurden eine zerebrale MR-Tomographie durchgeführt und die klinischen Daten erfaßt. Ergebnisse: Bei allen Patienten fand sich ein morphologisches Korrelat der Bewegungsstörung. Die Läsionen wurden nach pathophysiologischen Gesichtspunkten eingeteilt: zerebrale Entwicklungsstörungen ( n =3), periventrikuläre Leukomalazie ( n =2), periventrikuläre Substanzdefekte ( n =2), subkortikale Leukomalazie ( n =1), subkortikal-kortikale Substanzdefekte ( n =6). Bei 13 von 14 Kindern waren die Schwangerschafts- und Geburtsanamnese unauffällig. Diskussion: Aufgrund reifeabhängiger Reaktionsmechanismen des Gehirns kann von der Morphologie der Läsionen auf den Schädigungszeitpunkt geschlossen werden. Dieser lag bei der Mehrzahl unserer Patienten pränatal.

Eighteen children with West syndrome underwent MRI-examination of the brain. Five children were examined twice. Myelination of ten regions of the brain was retrospectively assessed on the MRI-examinations. The children could be divided in three groups of main diagnosis (cryptogenic West syndrome, tuberous sclerosis, pre-/perinatally acquired brain lesions). Delays in myelination were found in 17 out of a total of 23 examinations. In children with cryptogenic West syndrome and with tuberous sclerosis myelination was normal or only mildly delayed in the first month after onset of the spasms, but delays seemed to increase in the course of the West syndrome in these groups. In children with pre- or perinatally acquired brain lesions severe delays of myelination could be found already in the first weeks after the onset of the West syndrome. The assessment of myelination can therefore contribute to the diagnosis and understanding of the underlying disease in children with West syndrome.

777 cerebral MRI examinations of children aged 3 days to 14 years were staged for myelination to establish an age standardization. Staging was performed using a system proposed in a previous paper [1], separately ranking 10 different regions of the brain. Interpretation of the results led to the identification of four clinical diagnoses that are frequently associated with delays in myelination: West syndrome, cerebral palsy, developmental retardation, and congenital anomalies. In addition, it was found that assessment of myelination in children with head injuries was not practical as alterations in MRI signal can simulate earlier stages of myelination. Age limits were therefore calculated from the case material after excluding all children with these conditions. When simplifications of the definition of the stages are applied, these age limits for the various stages of myelination of each of the 10 regions of the brain make the staging system applicable for routine assessment of myelination.

In a retrospective study 516 cranial MRI examinations of children aged 1 month to 14 years were reevaluated for myelination. An objective staging system for the assessment of the degree of myelination was designed, based on the characteristic patterns of myelintypical signal which develop in the course of brain maturation. Thus myelination can be estimated using only routine MRI examinations; no additional measurements of signal intensities are necessary. In order to obtain detailed information, ten regions of the brain are ranked separately, with comparisons of the T1- and T2-weighted images for each region. The application of the staging system to the case material revealed typical age ranges for the stages, and retarded myelination in some children. In most cases the observed retardation affected several regions but never the whole brain. Such delays can only be detected by separate assessment of the degree of myelination in each region of the brain.