Introduction: Cantrell's pentalogy is a rare malformation, which associates 5 cardinal malformations: supraumbilical hernia of the abdominal wall, defect of the anterior part of the diaphragm and diaphragmatic pericardium, abnormality of the lower part of the sternum, heart defects. Ultrasound is essential in antenatal diagnosis. We report a case of polymaformative syndrome, including Cantrell pentalogy, acrania and iniencephaly. Observations: Mrs. BS, 24 years old, housewife, resident in rural areas, 3rd pregnancy, two live children, no medical-surgical history or known fetal malformation, no notion of teratogenic drug intake. Coming for his first ultrasound, which, performed by two radiologists concluded to a polyformative syndrome associating cantrell pentalogy, acrânie and iniencephaly: by the presence of a defect of closure of the anterior thoraco-abdominal wall resulting in an evisceration of the intra-abdominal organs, a cardiac malformation, the absence of formation of the bones of the skull, and absence of cervico-occipital bone formation with neck shortening and hyper extension of the head. The pregnancy was estimated at 27 weeks, the couple was informed of the fate of the future baby and the pregnancy intervention was proposed. After their agreement the labor was triggered, after 8 hours, she expelled a live newborn male, polymalformed confirming the ultrasound diagnosis, weighing 1900grams and lived only thirty minutes after birth. Conclusion: The polymalformative syndrome associating cantrell pentalogy, acrania and iniencepahlia is exceptional. Ultrasound is essential in diagnosis. Termination of pregnancy is the rule.
The sign of the scalp is the presence of perirenal fibrosis classically recognized as pathognomonic of Erdheim- Chester disease, a rare non-Langheransian histiocytosis. We report the case of a 31-year-old woman, wrongly followed and treated for bilateral polycystic kidney disease. She had no other medico-surgical history and had presented abdominal pain accentuated at the lumbar level, revealing on the abdomino-pelvic computed tomography performed at the ''Marie Curie'' Medical Clinic in Bamako, Mali, an aspect of hairy kidney. The diagnosis of non-Langheransian histiocytosis was retained in view of this specific and pathognomonic aspect. This was, to our knowledge, the first case described in Mali, the purpose of this work being to illustrate the role of CT in the diagnostic management of Erdheim- chester disease and to draw the attention of young radiologists and other specialists on the pathognomonic aspect of the scalp. The appearance of a scalp being considered semiologically as a very suggestive sign of Erdheim-Chester disease, the radiologist and his urologist or nephrologist counterparts must recognize these signs and finally not wrongly treat patients with this rare pathology.
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