Williams-Beuren syndrome diagnosis in an infant with atypical chromosome 7 microdeletion.

This patient is an infant with Williams-Beuren syndrome (WBS) who was diagnosed at 2 months of age. He was born by caesarean section with a low birth weight (LBW) of 2.1 kg and was small for gestational age. His para 1+1 (1 alive) mother in her mid-30s had intrauterine growth restriction during pregnancy. On examination at birth, he appeared phenotypically normal, but at 2 weeks old, he had subtle phenotypic features of WBS of fused filtrum, ulnar deviation of fingers and wide anterior fontanelle, a systolic murmur and mild gaseous distension of the abdomen.All neonatal reflexes were normal. The author saw this patient at 6 months of age at the well-baby clinic for his 6-month vaccinations during which examination revealed periorbital fullness. Investigations including chromosomal microarray analysis confirmed the diagnosis of WBS. Laboratory tests were essentially normal except for raised creatinine, chloride and liver aspartate transaminase and viral serology that showed reactive cytomegalovirus antibody IgG, rubella antibody IgG, toxoplasma IgG and positive herpes simplex virus type 1 IgG. Echocardiography revealed mild pulmonary artery stenosis. ECG revealed right ventricular hypertrophy. Abdominal ultrasonography was normal and so was cranial sonography. This is a unique case of early diagnosis of WBS in an infant with atypical chromosome 7 deletion in Qatar, Middle East. The patient is undergoing further multidisciplinary follow-up.

A huge haemorrhagic suprarenal pseudocyst: an unusual presentation of a rare condition.

Haemorrhagic suprarenal pseudocysts are very rare and are often incidental findings at surgery or autopsy, though they can sometimes present with predominantly gastrointestinal or endocrine symptoms, including intraperitoneal bleeding or sepsis. Our case report is of a 48-year-old man who presented at our primary healthcare centre with 2-month history of predominantly respiratory symptoms of cough and shortness of breath. CT scan revealed a suprarenal cyst measuring 14.2×13.5×13.1 cm for which he was operated and made a full recovery. A detailed literature review reveals that there has never been a case of a haemorrhagic suprarenal pseudocyst presenting with predominantly respiratory symptoms, which is why we decided to document this case report.