[A clinical approach in neuromuscular diseases in childhood]. / Neuromuskuläre Erkrankungen im Kindesalter: Klinisches Vorgehen.

The group of neuromuscular disorders includes disorders of the motor neurons in the medulla oblongata and myelon, the peripheral nerves, the neuromuscular junction, and of the muscle. Clinical manifestation varies from pre-/perinatal to adulthood. The prevalence of all neuromuscular disorders is about 1:1500. In the last years, knowledge of genetic defects in neuromuscular disorders has dramatically increased. This is due to an increase in knowledge of the underlying genetic defects. Hence the classification of the neuromuscular disorders is still changing. In clinical practice the history and the clinical examination of patients with suspected NMDs is very important in the correct selection of the necessary investigations. Many investigations are possible, but should be chosen according to the patient's symptoms. Careful interpretation of the results most often defines diagnosis. The aim of this article is to establish a work-up according to the patient's symptoms and problems in childhood.

Klippel-Feil syndrome and Sprengel deformity combined with an intraspinal course of the left subclavian artery and a bovine aortic arch variant.

SUMMARY: We present a case of Klippel-Feil syndrome and Sprengel deformity with a bovine aortic arch and an aberrant course of the left subclavian artery in a 14-year-old boy. CT and MR imaging of the neck and upper thorax demonstrated a cervical osseous segmentation anomaly, a left common carotid artery originating from the innominate artery, and a left subclavian artery coursing through the intraspinal space at the C6 through T1 level. Possible embryonic mechanisms and clinical significance of this variant are reviewed.

Neuropsychological problems after paediatric stroke: two year follow-up of Swiss children.

AIM: The aim of this study was to obtain information about neurological and cognitive outcome for a population-based group of children after paediatric ischaemic stroke. METHODS: Data from the Swiss neuropaediatric stroke registry (SNPSR), from 1.1.2000 to 1.7.2002, including children (AIS 1) and neonates (AIS 2). At 18-24 months after a stroke, a follow-up examination was performed including a history, neurological and neuropsychological assessment. RESULTS: 33/48 children (22 AIS 1, 11 AIS 2) participated in the study. Neurological outcome was good in 16/33. After childhood stroke mean IQ levels were normal (94), but 6 children had IQ < 85 (50-82) and neuropsychological problems were present in 75%. Performance IQ (93) was reduced compared to verbal IQ (101, p = 0.121) due to problems in the domain of processing speed (89.5); auditory short-term memory was especially affected. Effects on school career were common. Outcome was worse in children after right-sided infarction. Children suffering from stroke in mid-childhood had the best prognosis. There was no clear relationship between outcome and localisation of the lesion. After neonatal stroke 7/11 children showed normal development and epilepsy indicated a worse prognosis in the remaining 4. CONCLUSION: After paediatric stroke neuropsychological problems are present in about 75% of children. Younger age at stroke as well as an emergence of epilepsy were predictors for worse prognosis.

[Visual object and space perception battery: normal values for children from 8 to 12]. / Testbatterie für visuelle Objekt- und Raumwahrnehmung (VOSP): Normwerte für 8- bis 12-Jährige.

BACKGROUND: Diagnostics of central visual perception is a relevant branch of developmental medicine and neuropsychological diagnostic efforts of morphological or functional lesions of the brain. However, no assessment battery for testing the central-visual perception in German-speaking children exists. PROBANDS AND METHOD: In 30 children, aged 8 - 12 years, the Visual Object and Space Perception Test Battery (VOSP) was applied. RESULTS: The group values were documented as standard values. Instructions and aims of the tests were well comprehended by the children. CONCLUSION: The VOSP is well applicable to children. Further studies examining correlation between the VOSP and clinical data are warranted.

Cortical blindness: an unusual complication after removal of a ganglioneuroma of the neck.

A 5-year-old girl was operated upon after a huge mass had been found on the left side of her neck. Preoperatively the anatomy was studied using MRI, including 3D-reconstruction of the tumor. The left vertebral artery was seen to cross the tumor, and during the operation the vessel was preserved. Postoperatively it thrombosed and a permanent cortical blindness developed. One year later MRI angiography of the intracerebral vessels was performed and a pre-existing anomaly of the circle of Willis was demonstrated, which had contributed to the development of the cortical blindness.

Assessment of vitamin B-12, folate, and vitamin B-6 status and relation to sulfur amino acid metabolism in neonates.

BACKGROUND: Total serum homocysteine (tHcy) has been used as an indicator of intracellular vitamin B-12, vitamin B-6, and folate status in adults, but data for neonates and infants are lacking. Vitamin B-12 deficiency may have fatal effects on neurologic development in infants; therefore, early diagnosis is crucial. OBJECTIVE: Our aim was to provide a reference range for tHcy in neonates and to explore the relation of tHcy to 1) serum vitamin concentrations, 2) the product of the transsulfuration pathway (cysteine), and 3) nutritional factors. DESIGN: tHcy, cysteine, folate, vitamin B-12, and vitamin B-6 were measured in 123 healthy, breast-fed neonates. The influence of nutrition (formula or human milk) on these variables was investigated in 60 infants. RESULTS: The mean (+/-SD) tHcy concentration was 7.8 +/- 3.1 micromol/L. tHcy showed a linear association with log vitamin B-12 (r = -0.64, P: < 0. 001), red blood cell folate (r = -0.33, P: < 0.001), and cysteine (r = 0.36, P: < 0.001). The strongest linear association was found between tHcy and the ratio of log cysteine to log vitamin B-12 (r = 0.71, P: < 0.0001). We found more neonates with probable tissue deficiencies of vitamin B-12 and folate on the basis of tHcy measurements than was expected from the analysis of serum vitamin concentrations alone (15.4% compared with 9.7%). Breast-fed infants had significantly lower vitamin B-12 concentrations and significantly higher serum tHcy and cysteine concentrations and ratios of log cysteine to log vitamin B-12 than did formula-fed infants (P: < 0.001). CONCLUSIONS: tHcy can be used as a functional indicator of vitamin B-12 and folate status in neonates. The ratio of cysteine to vitamin B-12 can be used as an additional index of impaired intracellular Hcy metabolism. tHcy and cysteine concentrations in infants are affected by nutritional factors.

[Demonstration of mesangial IgA deposits in kidney biopsies of pediatric patients: comparison with the clinical picture]. / Nachweis von mesangialen IgA-Ablagerungen in der Nierenbiopsie pädiatrischer Patienten: Vergleich mit dem klinischen Bild.

Clinical and morphological findings were evaluated in 25 children with mesangial IgA deposits. 19 patients had recurrent macroscopic hematuria (n = 10), chronic proteinuria > 40 mg/(m2.h) (n = 5), recurrent hematuria with chronic proteinuria (n = 3), or chronic nephrotic syndrome (n = 1). The glomerular involvement was similar in six patients with history of Schönlein-Henoch purpura and in 13 patients without such history: normal or nearly normal glomeruli (n = 3), focal and segmental glomerulonephritis (n = 11) and diffuse proliferative glomerulonephritis (n = 5). End-stage renal disease developed in two patients with proteinuria > 40 mg/(m2.h) and more than 50% of their glomeruli are affected by crescents. The common histopathological features in patients with and without history of Schönlein-Henoch purpura suggest a common pathogenesis. The risk of poor outcome appears, related to the severity of proteinuria and to the presence of crescents, in more than 50% of glomeruli. Mesangial IgA deposits were also demonstrated in six children with steroid-responsive idiopathic nephrotic syndrome: light microscopic studies revealed normal or nearly normal glomeruli in five and focal segmental glomerular sclerosis in one patient. The microscopic findings were clearly different in the six patients with idiopathic nephrotic syndrome as compared with the patient with chronic nephrotic syndrome, who presented with severe glomerular lesions and extensive crescent formation. The results indicate that the presence of mesangial IgA deposits in the clinical setting of idiopathic childhood nephrotic syndrome is incidental and that such patients should still be considered as having idiopathic nephrotic syndrome in spite of their immunopathological features.

The value of family investigations in newly detected Charcot-Marie-Tooth disease in children.

Charcot-Marie-Tooth disease (CMT) was diagnosed by nerve conduction velocity and histology of the sural nerve in two boys aged 3 and 6 years with clinical signs of a severe neuromuscular disease. DNA analysis revealed the typical duplication on chromosome 17p11.2 (2.7 kb allele) for CMT 1A. Although none of their family members reported symptoms of neuromuscular disease, the nerve conduction velocity was reduced in three members (father and two aunts). They were homozygous for the 2.7 kb allele and were assumed to carry three copies of this allele. The very differing clinical picture from one generation to the next in patients with identical neurophysiological and genetic results is discussed.

[Levamisole in children with frequently recurring idiopathic nephrotic syndrome]. / Levamisol bei Kindern mit häufig rezidivierendem idiopathischem nephrotischem Syndrom.

10 children (8 boys and 2 girls) with frequently relapsing idiopathic nephrotic syndrome were treated with levamisole (5 mg/kg weekly). In 6 children with steroid dependent nephrotic syndrome a marked reduction in steroids by 62% to 75% was possible. Severe, transient neutropenia was observed in one patient. Levamisole failed to influence the disease course positively in 3 patients with relapses associated with intercurrent illness. It is concluded that levamisole may favourably influence steroid dependence in children with frequently relapsing idiopathic nephrotic syndrome.

Assessment of brain maturation by T2-weighted MRI.

MRI is a noninvasive method to assess the maturation of the brain. T2 values decrease after birth in proportion to histologically ascertained maturational changes of cortical and subcortical structures. T2 values of 8 anatomical brain structures were sampled in 5 healthy children aged 8 years, four healthy children aged 10 years and 8 healthy adults aged 24 or 25 years. The results of the study indicated that T2 values decrease after the first decade of life, consistent with maturational changes of the CNS persisting into the 2nd and 3rd decades of life.

[The treatment of juvenile migraine using flunarizine or propranolol]. / Behandlung der kindlichen Migräne mit Flunarizin bzw. Propranolol.

The clinical efficacy of flunarizine and propranolol for the prevention of migraine attacks was assessed in 33 children in a double blind study. After a run-in phase of one month, 32 patients started the active medication. A reduction in the number of migraine attacks was observed in 75% of the flunarizine group and in 73.8% of the propranolol group. Propranolol also reduced the severity of attacks. Transient side effects were observed in 3 of 17 of the flunarizine group and in 5 of 15 of the propranolol group. The most frequent side effect was increased fatigue, which required interruption of therapy in 2 patients of the propranolol group.