the tourniquet syndrome in childhood should be included in the list of possible forms of child abuse and should be considered as a differential diagnosis until another aetiology can be convincingly proven.
Active surveillance data on the rate of NTDs are compatible with the maximum decrease of about 20% to be expected from data on the implementation of the recommendations. A much greater decrease in NTDs should be the challenge for the future.
X-linked adrenoleukodystrophy (X-ALD) is the most common peroxisomal disorder characterized by abnormal accumulation of saturated very long chain fatty acids in tissues and body fluids with predominance in brain white matter and adrenal cortex. The clinical phenotype is highly variable ranging from the severe childhood cerebral form to asymptomatic persons. The responsible ALD gene encodes the adrenoleukodystrophy protein (ALDP), a peroxisomal integral membrane protein that is a member of the ATP-binding cassette (ABC) transporter protein family. The patient gene mutations are heterogeneously distributed over the functional domains of ALDP. The extreme variability in clinical phenotype, even within one affected family, indicates that besides the ALD gene mutations other factors strongly influence the clinical phenotype. To understand the cell biology and function of mammalian peroxisomal ABC transporters and to determine their role in the pathogenesis of X-ALD we developed a system for expressing functional ABC protein domains in fusion with the maltose binding protein. Wild type and mutant fusion proteins of the nucleotide-binding fold were overexpressed, purified, and characterized by photoaffinity labeling with 8-azido ATP or 8-azido GTP and a coupled ATP regenerating enzyme assay for ATPase activity. Our studies provide evidence that peroxisomal ABC transporters utilize ATP to become a functional transporter and that ALD gene mutations alter peroxisomal transport function. The established disease model will be used further to study the influence of possible disease modifier proteins on ALDP function.
Sir,Orbital tumours in newborns are rare. In most cases they are either solid embryogenic tumours such as dermoid cysts [3] or vascular malformations such as capillary haemangiomas [2]. Common clinical characteristics are exophthalmia, conjunctival injections, periorbital redness, and amblyopia. This clinical picture is also present in patients with retrobulbar abscesses. Since a congenital retrobulbar abscess seems to be a very rare condition a report of a further case may be of interest.A 10-day-old female was referred to our hospital because of redness and swelling of her right eye since birth. After an uneventful pregnancy she was born at 41 weeks of gestation. With the exception of the eye symptoms, her neonatal period was normal. Despite local administration of antibiotics assuming a conjunctival infection the eye symptoms worsened within the next days.At 10 days of age her right eye showed prominent protrusion of the bulb, periorbital swelling and hyperaemia, conjunctival injections due to a permanent lagophthalmia and a purulent fluid along the lid (Fig. 1). Internal and neurological examinations were normal, there was no history of fever. The laboratory parameters showed an erythrocyte sedimentation rate of 40 mm/h, a C-reactive protein of 1.3 mg/dl and a leukocytosis of 20,000 cells/l. Since the girls overall clinical picture resembled an infectious disease such as orbital phlegmone, we changed her medication to intravenous administration of ampicilline (100 mg/kg/d), oxacilline (100 mg/kg/d) and gentamycine (2 mg/kg/d). All vaginal cultures of the mother were sterile. Ophthalmologic examination did not reveal any abnormalities of the nasolacrimal ducts. MR imaging and CT scan of the orbits showed a large intraconal lesion (diameter 2 cm) located behind the globe and underneath the right optic nerve. The lesion presented as a homogenous structure, with sharp demarcation lines, poor contrast enhancement and a cyst within the central portion (Fig. 2 a).The lesion was biopsied using a transconjunctival approach. After a small incision along the inferior corner of the cornea, the conjunctiva was retracted and a solid encapsulated tumour was seen on the retrobulbar side of the muscle cone. Resection of the rostral capsule revealed a large amount of pus that was aspirated. Histological and microbiological examinations of the biopsy material established the final diagnosis of a retrobulbar abscess caused by Staphylococcus aureus and Streptococcus B. The patient was treated by local and intravenous application of antibiotics for a total of 18 days, followed by orally taking flucloxacilline for another seven days. Two months after treatment the girl showed only minimal exophthalmia of the Letter to the Editor
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