Marked increase of final height by long-term aromatase inhibition in a boy with idiopathic short stature.

Growth hormone (GH) is the most frequently used treatment in children with idiopathic short stature (ISS). Aromatase inhibitor (AI) therapy is still in an experimental state, and both final height (FH) and long-term efficacy data in ISS have not been published. We present a 14.5-year-old boy with ISS and a height of 142.7 cm [standard deviation score (SDS) -2.79]. Based on the baseline bone age (BA) of 13.5-14 years, his predicted adult height (PAH) by Bayley/Pinneau was 154 cm (SDS -3.77)-158.2 (SDS -3.15). After a 5-year letrozole monotherapy, FH was 169 cm (SDS -1.57) showing a height difference between PAH and FH from 10.8 to 15 cm. No permanent side effects of the medication have been observed. Both a transient occurrence and a spontaneous recovery of decreased bone mineral apparent density were seen, verified by dual-energy X-ray absorptiometry. Spinal magnetic resonance imaging revealed no vertebral abnormalities. All therapy might be an effective and low-cost alternative to the use of GH. Further controlled trials should prove efficacy and safety of long-term AI therapy in boys with ISS.

CD59 deficiency presenting as polyneuropathy and Moyamoya syndrome with endothelial abnormalities of small brain vessels.

CD59 is involved in lymphocyte signal transduction and regulates complement-mediated cell lysis by inhibiting the membrane attack complex. In the cases reported so far, congenital isolated CD59 deficiency was associated with recurrent episodes of hemolytic anemia, peripheral neuropathy, and strokes. Here, we report on a patient from a consanguineous Turkish family, who had a first episode of hemolytic anemia at one month of age and presented at 14 months with acute Guillain-Barré syndrome (GBS). The child suffered repeated infection-triggered relapses leading to the diagnosis of chronic inflammatory demyelinating polyneuropathy (CIDP). Although partly steroid-responsive, the polyneuropathy failed to be stabilized by a number of immunosuppressive agents. At the age of 6 years, he developed acute hemiparesis and showed progressive stenosis of proximal cerebral arteries, evolving into Moyamoya syndrome (MMS) with recurrent infarctions leading to death at 8 years of age. Post-mortem genetic analysis revealed a pathogenic p.(Asp49Valfs*31) mutation in CD59. Re-analysis of brain biopsy specimens showed absent CD59 expression and severe endothelial damage. Whereas strokes are a known feature of CD59 deficiency, MMS has not previously been described in this condition. Therefore, we conclude that in MMS combined with hemolysis or neuropathy CD59 deficiency should be considered. Establishing the diagnosis and targeted therapy with eculizumab might have prevented the lethal course in our patient.

Transient intradural catheter lysis in a patient with a diffuse and elongated subdural hematoma of the spine due to trauma. Case report.

The often extended and elongated configuration of a diffuse subdural hematoma of the spine makes it impossible to completely evacuate with common neurosurgical approaches. The authors describe the complete evacuation of a diffuse subdural hematoma of the entire spine due to trauma in a patient who suffered myelopathy and paraplegia in succession, by using transient subdural catheter lysis. After the patient underwent a partial hemilaminectomy at T7-8 and L2-3 using a lateral transmuscular approach, a 15 cm-long intraventricular catheter was inserted at each hemilaminectomy site and connected to an external ventricular drainage system in a procedure lasting 1 hour. Subsequently, 5000 IU of urokinase was applied four times daily for 30 minutes each time over the next 5 days. Two months later, the patient presented with spastic paraparesis Manual Muscle Test Grade 4/5. Magnetic resonance (MR) imaging revealed no catheter-related complications. The authors conclude from this case that transient catheter lysis may be an effective and gentle method to treat diffuse and elongated subdural hematomas of the spine due to trauma. A larger series needs to be analyzed, however, to address the indications and limitations of the technique compared with conventional open surgery. Such evaluation should include serial MR imaging and electrophysiological examination.

Late-onset autosomal dominant limb girdle muscular dystrophy and Paget's disease of bone unlinked to the VCP gene locus.

The broadwide spectrum of differential diagnoses of autosomal dominant muscular dystrophies in adults can be specified by additional features. The combination of late-onset muscular dystrophy, rimmed vacuoles and inclusion bodies in the muscle biopsy, and Paget's disease of bone suggests a mutation in the Valosin-containing protein gene (VCP, p97 or CDC48) even without dementia. We report on a German family with late-onset autosomal dominant muscular dystrophy starting in the pelvic girdle about age 40years, a subsequent rapidly-progressing course, high alkaline phosphatase and Paget's disease of bone. Clinical examination revealed no cognitive impairment. Histology showed myopathic changes with rimmed vacuoles and inclusion bodies on muscle biopsy. Mutations in VCP, filamin C, desmin, alphaB-crystallin, ZASP and myosin heavy chains 2 and 7 as well as the genes for facioscapulohumeral muscular dystrophy, Myotonic Dystrophy I and II, and LGMD1A-G were excluded by a combination of linkage analysis and direct sequencing. The family presented here suggests that a yet-unknown genetic defect can give rise to an autosomal dominant myopathy with Paget's disease but without dementia.

Bilateral ce-MR angiography of the hands at 3.0 T and 1.5 T: intraindividual comparison of quantitative and qualitative image parameters in healthy volunteers.

The purpose of this study was to determine the benefit of bilateral contrast-enhanced MR angiography (ce-MRA) of the hands at 3.0 Tesla (T) compared with an established 1.5-T technique in healthy volunteers. Intraindividual bilateral ce-MRA of the hands was performed at 1.5 T and 3.0 T in 14 healthy volunteers using a timed ultra-fast GRE sequence featuring parallel acquisition. The evaluation comprised measurement of the vessel signal-to-noise ratio (SNR) and contrast-to-noise ratio (CNR), rating of the image quality and the assessment of artefacts and venous contamination. At 3.0 T, SNR improved up to 95% and CNR up to 129%. The image quality of the larger inflow arteries, the palm arches and common digital arteries was good or sufficient at either magnetic field strengths. However, 3.0-T MRA was clearly superior in the depiction of the digital arteries. Ce-MRA of the hand clearly profits from the use of 3.0 T. Compared with 1.5 T, a substantial increase of CNR is found resulting in a significantly better delineation of the small digital arteries. Saturation affects more the SNR of the perivascular tissue than the contrast-enhanced blood, and thus leads to a marked increase of CNR at 3.0.