Painful rash and swelling of the limbs after recurrent infections in a teenager: polyarteritis nodosa.

UNLABELLED: Polyarteritis nodosa is a rare disease in childhood and adolescence that is difficult to diagnose clinically. We report on a 17-y-old girl presenting with a history of recurrent infections of the upper respiratory tract and conjunctivitis followed by a painful rash on the upper and lower extremities resembling erythema nodosum. The diagnosis of polyarteritis nodosa was proven by skin biopsy. Therapy with intravenous immunoglobulins failed, but with systemic steroids she responded promptly. CONCLUSION: Polyarteritis nodosa is a differential diagnosis in adolescents presenting with fever and an erythema nodosum-like rash.

Dyggve-Melchior-Clausen syndrome and Smith-McCort dysplasia: clinical and molecular findings in three families supporting genetic heterogeneity in Smith-McCort dysplasia.

Dyggve-Melchior-Clausen syndrome (DMC) (MIM 223800) and Smith-McCort dysplasia (SMC) (MIM 607326) are rare allelic autosomal recessive spondylo-epi-metaphyseal dysplasias (SEMDs) characterized by similar skeletal manifestations. Both phenotypes have been mapped to chromosome 18q21.1 and mutations in the DYM (dymeclin) gene were identified in 13 families with DMC and in two families with SMC. Most mutations identified in DMC predict a loss of function, while those identified in SMC are mainly missense mutations, presumably associated with residual DYM activity and a less severe phenotype. We studied three consanguineous families from Turkey, Lebanon, and Georgia, one with SMC and two with DMC and identified different homozygous DYM mutations (IVS3 194-1G > A, 938_942delTGTCT) in the DMC families. No mutation was identified in the SMC family, possibly suggesting genetic heterogeneity of this disorder.

A decreasing rate of neural tube defects following the recommendations for periconceptional folic acid supplementation.

BACKGROUND/AIM: Neural tube defects (NTDs) are the most common birth defects, resulting in severe mortality and morbidity. In 1995, the supplementation of folic acid periconceptionally was officially recommended in Germany. The impact of the recommendations on the rate of NTDs was assessed. METHODS: An active surveillance system was established in the northern Rhine area. From 1996, all departments of obstetrics were asked to report cases of NTDs in all abortions, live births and stillbirths. Compliance with the recommendations was evaluated in a sample of mothers who delivered at the Department of Obstetrics of Düsseldorf University in 2001. RESULTS: From 1996-2003, 520 NTDs were reported. Compared to the rate of NTDs in 1996 (10.5/10,000), the average incidence in the years 1997 to 2003 dropped (6.8/10,000). The intake of folic acid, as recommended, was low among the general population (21.1%). CONCLUSION: 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.

Tourniquet syndrome--accident or abuse?

UNLABELLED: The tourniquet syndrome describes severe strangulations of appendages by hair, cotton or similar material mainly observed in young infants. The painful swellings of digits or external genitals are surgical emergencies because the strangulation can cause ischaemia and tissue necrosis. More than 100 cases of the tourniquet syndrome have been reported in most of which the aetiology was unclear. We have treated five patients with a tourniquet syndrome. Four of them presented with strangulations of one or more toes by hair or threads and one girl was diagnosed with a clitoral tourniquet syndrome. In each case the strangulating material could be removed in time avoiding permanent damage. The lack of any reasonable explanation and the meticulous wrapping made a non-accidental course very likely. Due to the lack of convincing explanations in our cases as well as in most of those described in the literature, we suggest that the tourniquet syndrome is often the result of child abuse, an aetiology overlooked for decades. CONCLUSION: 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.