OBJECTIVES To evaluate the frequency of seizures in primary antiphospholipid syndrome (PAPS) and their possible clinical and laboratory associations. METHODS Eighty-eight PAPS patients (Sydney's criteria) were analyzed by a standard interview, physical examination and review of medical charts. Risk factors for seizures, clinical manifestations, associated comorbidities, and antiphospholipid a...

how to cite this article: saeed m, haq a, qadir kh.bart’s syndrome associated corpus callosum agenesis and choanal atresia. iran j child neurol. 2014 autumn;8(4): 76-79. abstract objective bart’s syndrome is defined as congenital localized absence of skin, and associated with epidermolysis bullosa. a newborn with bart’s syndrome is reported because it is a very rare condition, especially when a...

Leukemia cutis (LC) is defined as infiltration of the skin by leukemic cells resulting in clinically recognizable cutaneous lesions. It is common in congenital leukemia and acute myeloid leukemia. However, LC has rarely been reported with mixed phenotypic acute leukemia (MPAL). We report the case of a lady who presented with erythematous papular and nodular lesions all over the body. Skin biops...

Aplasia cutis congenita is the congenital absence of skin. The majority of these defects involve the vertex of the scalp in the area overlying the sagittal sinus. The larger defects are predisposed to sudden lethal hemorrhage and require urgent closure. Local rotational scalp flaps are recommended for closure of the larger defects because they provide the most reliable coverage, eliminate the r...

Aplasia cutis congenita is a heterogeneous group of conditions usually involving the scalp as well as any other part of the body and is associated with a number of other congenital anomalies. We report on a newborn male with almost complete absence of skin and subcutaneous tissue in association with choanal atresia, syndactyly, imperforate anus, pulmonary hypoplasia, and other anomalies. To our...

To cite: van Geyzel L, Gribbon C, Bradley S, et al. BMJ Case Rep Published online: [please include Day Month Year] doi:10.1136/ bcr-2016-217959 DESCRIPTION A male infant presented with drooling of saliva at birth. There was an antenatal history of polyhydramnios. Oesophageal atresia and tracheoesophageal fistula (OA/TOF) were confirmed by the coiled nasogastric tube on chest X-ray. Skin was per...

To cite: Modell MM. BMJ Case Rep Published online: [please include Day Month Year] doi:10.1136/bcr-2014203975 DESCRIPTION A 49-year-old female self-contained underwater breathing apparatus (SCUBA) diver who presented to the Hyperbaric Medical Center with sudden skin discolouration, fatigue, dizziness and blurred vision 3 h following a dive. All dives, made on air, were up to 25 m deep, with no ...

BACKGROUND Several reports have suggested that propylthiouracil (PTU) may be safer than methimazole (MMI) for treating thyrotoxicosis during pregnancy because congenital malformations have been associated with the use of MMI during pregnancy. OBJECTIVES We investigated whether in utero exposure to antithyroid drugs resulted in a higher rate of major malformations than among the infants born t...