Objectives: The aim of this cross-sectional study was to assess the vitamin D status and muscle function in children with NF1 compared with their unaffected siblings. Methods: NF1 children between 5 and 18 years of age and who had at least one unaffected sibling were identified. Serum concentrations of 25-hydroxyvitamin D (25(OH) D), calcium, inorganic phosphate, alkaline phosphate, parathyroid hormone and 1,25-dihydroxyvitamin D were measured. The Leonardo Mechanography Ground Reaction Force Platform (GRFP) was used to measure EFI, jump power, force and height. Results: There was no significant difference in 25(OH) D between NF1 subjects and unaffected siblings. Relative jump power and force were found to be significantly different. The adjusted means (95% confidence limits) of non-NF1 and NF1 children for relative jump power (W/kg), controlling for body mass and age, were 37.31 (34.14, 40.49) and 32.51 (29.34, 35.68), respectively (P=0.054); and force (N/kg), controlling for body mass, age and gender, were 25.79 (24.28, 27.30) and 21.12 (19.61, 22.63), respectively (P<0.0001). Jumping parameters were not related to serum 25(OH) D. Conclusions: There was no significant relationship between vitamin D status and NF1 status in children. NF1 children had significantly impaired jumping power and force, when compared to their unaffected siblings.

Neurofibromatosis type one (NF1) is associated with a number of neurological complications including aqueduct stenosis, CNS tumours and spinal root neurofibromas. We report a case with two common complications resulting in one rare association. A 30-year-old man with NF1, epilepsy and severe anxiety presented with 2-year history of progressive gait dysfunction and mild urinary urgency. He reported no incoordination, auditory or olfactory disturbance. There was no history of trauma, thunderclap headache or neurosurgical intervention. Examination revealed a left enophthalmos and an asymmetrical spastic paraparesis. Spinothalamic sensation was impaired in the lower limbs but without a demonstrable sensory level. He had a thoracic kyphoscoliosis and typical cutaneous stigmata of NF1. Spinal cord imaging was expected to reveal cord compression but, despite a marked kyphoscoliosis and gross dural ectasia with lateral meningocele formation, only minor anterior cord indentation was seen at the T5/6 gibbus. An MR scan of the brain revealed left sphenoid wing hypoplasia and superficial siderosis of the cerebellum, brainstem and cervical cord. MR angiogram of the brain vessels failed to demonstrate any vascular abnormality to act as a source of bleeding. His anxiety (precipitated by undergoing hospital investigations) has prevented any subsequent investigation or treatment. This is the first reported case of superficial siderosis in a patient with NF1 plus both sphenoid wing hypoplasia and dural ectasia. We propose that distorted meninges at either site are the source for chronic bleeding.

BACKGROUND:Altered growth, body composition and abnormalities of skeletal mineralisation have been reported in offspring of mothers with type 1 and type 2 diabetes mellitus. AIMS:The authors hypothesised that children born to mothers with type 1 diabetes mellitus (CDM) would be taller, have higher body mass index (BMI), greater fat mass, thicker diaphyseal bone cortices and reduced trabecular bone mineral density (BMD), as compared to those born to non-diabetic mothers. METHODS:Anthropometric, body composition and bone parameters were assessed using dual-energy x-ray absorptiometry (DXA) and peripheral quantitative CT in 67 white Caucasian CDM (35 boys; age 5-18 years) and in 246 (121 boys) age-matched controls. RESULTS:CDM were taller (p<0.0001), heavier (p<0.0001) and had higher BMI (p=0.02), and had 32% more total body fat mass and 7.5% more total body lean mass than controls. At the total body and lumbar spine (L1-L4) sites, CDM had significantly higher bone area and bone mineral content compared with controls. However, areal BMD at both these sites and lumbar spine bone mineral apparent density were not significantly different in the two groups, indicating that CDM have bigger bones compared with controls but their mineral content per unit area or volume is not substantially different. The distal radial trabecular and total volumetric BMD in CDM was not demonstrably different from controls. At the mid-radius, both periosteal (2.4%; p=0.03) and endosteal circumferences (5.7%; p=0.02) were bigger in CDM compared with controls. CONCLUSION:The authors speculate that the intrauterine diabetic environment is associated with an increase in linear growth, adiposity and larger bone dimensions during childhood and adolescence.