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.

Comparative Analysis of Rural Health Demographics in 2 East African Communities During Medical Camps: Volunteers' Perspectives'.

AIMS AND OBJECTIVES: To compare of basic health and social demographics observed during 4-day medical camps in 2 rural communities in Zambia and Malawi to determine any significant differences or similarities. METHOD: About 12 and 10 local and international volunteers at medical camps (at a temporary rural health post or community hall) in rural Zambia and Malawi respectively treated 488 patients in total, with basic health and social demographic data collected and results analyzed. RESULTS: The mean age of patients seen in Malawi and Zambia were 34.5 and 38.9 years respectively, with 39% and 40% of patients in Malawi and Zambia respectively being within the 18 to 44 years age group, and mostly females (59.7% in Malawi and 65.7% in Zambia). Most were non-infectious diseases (97.3% in Zambia, 95% in Malawi), mostly musculoskeletal (17.0% in Malawi and 30.5% in Zambia), while medications prescribed were mostly analgesics (35.7% in Malawi and 29.9% in Zambia). Only a small proportion of patients were referred to local secondary facilities or district hospitals, 51 (28.7%) in Malawi and 59 (19.9%) in Zambia respectively. Chi square test shows a significant difference (P < .001) in diseases in both countries, but there was no statistically significant difference between the mean age of patients seen in both countries, using the independent t-test (P = .365). CONCLUSION: This study highlights statistically significant demographic differences between the 2 communities and possible reasons for these, and how volunteers' roles in rural healthcare in the East African communities could be further evaluated.