Background
Hurler–Scheie syndrome is an intermediate form of mucopolysaccharidosis type I which is a rare lysosomal storage disorder caused by the deficiency or complete absence of enzyme alpha-L-iduronidase activity. We report the first documented cases of Hurler–Scheie syndrome observed in Niger in a Touareg family.
Case presentation
We studied the case of two 12-year-old twin Touareg boys and their 10-year-old Touareg sister whose parents are first-degree cousins, and there was no history of similar cases in their previous generations. The diagnosis of Hurler–Scheie syndrome was considered in these patients on the basis of clinical and radiological arguments, with the highlighting of a deficiency of enzyme alpha-L-iduronidase in serum and leukocytes. The twins had presented the first symptoms at the age of 24 months and the diagnosis of Hurler–Scheie syndrome was made at the age of 12 years. In their younger sister, the first symptoms were observed at the age of 3 years and the diagnosis was made at the age of 10 years. The three probands were born after a normal full-term pregnancy and a spontaneous vaginal delivery according to their parents. Their birth weight, height, and head circumference were within normal limits according to their parents. The three probands were brought in for consultation for stunted growth, joint stiffness with gait disorders, deformities of the thoracolumbar spine, recurrent otitis media, decreased hearing, increased abdominal volume, snoring during sleep, and facial dysmorphism.
Conclusions
Even in countries with limited access to diagnostic means, a good knowledge of the clinical manifestations of the disease can help to guide the diagnosis of mucopolysaccharidosis type I.
Introduction: Arterial aneurysms affect 7 to 8% of people over 65 in the West and are the 2nd leading cause of death in these countries. In Africa this frequency is poorly evaluated. The objective of this work is to report the management of arterial aneurysms at the National Hospital of Niamey (HNN). Patients and methods: This was a retrospective, descriptive study over a period of eight (8) years from January 2009 to December 2016, performed in the surgical departments of the National Hospital of Niamey. Included in the study were patients of both sexes, hospitalized and / or operated for arterial aneurysm. Not included were patients treated for arterial aneurysm with incomplete records or those concerning the neurosurgical sphere. Results: During the study period, 17,748 patients were hospitalized in the general surgery departments, including 16 patients for arterial aneurysm, or 0.09% of surgical pathologies. There were 13 men (81.25%) and 3 women (18.75%), or a sex ratio of 4.33. The average age was 55.75 years with extremes ranging from 25 years old to 90 years old. The circumstances of discovery of the aneurysms were swelling of the antero-internal aspect of the thigh in 7 cases (43.75%), abdominal mass 6 cases (37.50%), then 2 cases (12.50%) of chest pain and incidental discovery in 1cas (6.25%). The most common risk factor was high blood pressure with 43.75% (7 cases). The aneurysm sat on the femoral artery in 43.75% (n = 7), of which 6 on the deep femoral and 1 on the superficial femoral, on the infrarenal aorta in 31.25% (n = 5), on thoracic aorta 12.50% (n = 2), on the iliac artery 12.50% (n = 2). For the diagnosis the angioscanner is realized in all the patients and in addition Doppler ultrasound in 43, 75% of cases. Twelve (12) patients benefited from curative surgical intervention by prosthetic graft by PTFE in 58.33% of cases and by Dacron in 41.66%. The average stay was 29.75 days and the immediate operative followup was complicated by thrombosis in 12.5% and parietal suppurations in 6.25%. We recorded two (2) deaths, ie 12.5% among non-operated patients. Conclusion: Arterial aneurysms are rare diseases at the HNN. Conventional surgery is the treatment performed in our patients. The postoperative course was simple in most cases.
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