scholarly journals Alobar Holoprosencephaly with Cebocephaly in a Neonate Born to an HIV-Positive Mother in Eastern Uganda

2021 ◽  
Vol 2021 ◽  
pp. 1-4
Author(s):  
Franck Katembo Sikakulya ◽  
Sonye Magugu Kiyaka ◽  
Robert Masereka ◽  
Robinson Ssebuufu

Background. Holoprosencephaly (HPE) is a rare cerebrofacial abnormality resulting from the complete or partial failure of the diverticulation and cleavage of the primitive forebrain. It has an incidence at birth of 1:16000. Case Presentation. We report a case of a 2600 g newborn female delivered by an HIV-infected mother in whom an antenatal ultrasound scan at 34 weeks’ gestation reported features of fetal alobar holoprosencephaly. The neonate was born with cebocephaly, a monkey-like head, and did not survive for more than 30 minutes following delivery by caesarian section despite oxygen therapy. Conclusion. Alobar HPE with cebocephaly remains incompatible with life. In this resource-limited setting, the diagnosis was made clinically, and only an ultrasound scan was performed to confirm the diagnosis. Chromosomal analysis could have given more information.

PLoS ONE ◽  
2014 ◽  
Vol 9 (12) ◽  
pp. e115171 ◽  
Author(s):  
Christine Mugasha ◽  
Joanita Kigozi ◽  
Agnes Kiragga ◽  
Alex Muganzi ◽  
Nelson Sewankambo ◽  
...  

2019 ◽  
Vol 2019 (1) ◽  
Author(s):  
Eman Abdalla Ali Elnaw ◽  
Awad Rhmattalla Abdalla ◽  
Mohamed Ahmed Abdullah

Abstract Background We report a case of right adrenocortical adenoma in a girl with features suggestive of Beckwith Wiedemann syndrome to show the importance of tumor surveillance in patients with Beckwith Wiedemann syndrome. Case presentation A 4-years-old female with features suggestive of Beckwith-Wiedemann syndrome presented with 9 months history of virilization. Hormonal investigations results showed high levels of testosterone (2.3 ng/ml, normal values 0.1–0.4 ng/ml), and DHEAS (73 ng/ml normal values 1-6 ng/ml) with normal cortisol level. Computed tomography revealed a right adrenal mass. She underwent right adrenalectomy. Histopathological examination of the resected adrenal gland showed adrenocortical adenoma. Her postoperative evaluation showed a normal testosterone level. Conclusion Adrenocortical neoplasms though rare in children are well documented in Beckwith-Wiedemann syndrome patients. So tumor surveillance protocol should be employed, even in a resource-limited setting for early tumor detection and a better outcome.


2008 ◽  
Vol 19 (8) ◽  
pp. 529-532 ◽  
Author(s):  
Somsamorn Mangclaviraj ◽  
Stephen J Kerr ◽  
Surasith Chaithongwongwatthana ◽  
Jintanat Ananworanich ◽  
Bernard Hirschel ◽  
...  

2019 ◽  
Vol 2019 ◽  
pp. 1-5
Author(s):  
Boniface Amanee Elias Lumori ◽  
Daniel Muyanja

Introduction. Paroxysmal nocturnal hemoglobinuria (PNH) is a very rare disorder of the hematopoietic stem cells which is often underdiagnosed. Its incidence is about 5 cases per million inhabitants in a year, and currently, there are only 1610 patients in the International PNH Registry. In this report, we describe a case of PNH in southwestern Uganda. Case Presentation. A 34-year-old man, subsistence farmer, with a history of multiple prior presentations with anemia, jaundice, and dark-colored urine requiring blood transfusions presented to us again in July 2018 with a week’s history of palpitations, dizziness, and dark-colored urine. Investigations done suggested a direct antiglobulin test- (DAT-) negative hemolytic anemia, and subsequently, flow cytometry showed a large clone of PNH. He received many blood transfusions and hematinics on several occasions during the course of his admissions. Conclusions. Our report showed diagnostic and treatment challenges of PNH in health resource-limited setting.


2019 ◽  
Vol 25 ◽  
pp. 117
Author(s):  
S Chandraprabha ◽  
T Jayalakshmi ◽  
Reshma Vijay ◽  
Kavitha Muniraj ◽  
Muralidhara Krishna ◽  
...  

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