Vein of Galen aneurysmal malformation diagnosed prenatally: A case report.

The vein of Galen aneurysmal malformation is a rare congenital malformation of the cerebral blood vessels. It is a result of the persistence of an embryonic vessel that drains multiple arteriovenous shunts. This malformation can cause a multitude of symptoms ranging from cardiac failure to headaches depending on the age of presentation. In the fetus, cardiac manifestations are rare and are linked to a very poor prognosis. That's why prenatal diagnosis is crucial in early detection and management. We present a case of a vein of Galen aneurysmal malformation, diagnosed prenatally with ultrasonography. The newborn developed widely a high-output cardiac failure. Prenatal diagnosis facilitates the early detection of this malformation as well as predicting the prognosis.

The challenging diagnosis and management of the prune belly syndrome: A case report.

Prune belly syndrome is a rare disorder that occurs mainly in men. It is characterized by the triad of deficient abdominal wall muscles, the dilated urinary collecting system, bilateral cryptorchidism, and infertility. It mainly affects the genitourinary system, which involves the prognosis. We present the case of a preterm neonate male whose diagnosis of a prune belly was suspected in antenatal ultrasound. He had a urinary tract abnormality starting at 22 weeks of gestation. At birth, a clinical examination revealed a distended abdomen within a wrinkled and flaccid abdominal wall, a macropenis, and bilateral cryptorchidism. A urinary tract ultrasound revealed a right pyelocaliciel dilatation and a right megaureter with a megacystis. The neonate ultimately died due to severe renal failures. Prune Belly syndrome is a complex disease with a high mortality rate. Early antenatal ultrasound may ameliorate the prognosis.

Congenital liquified subcutaneous fat necrosis in a newborn: an unusual case.

Subcutaneous fat necrosis of the newborn is a self-limited disorder of the panniculus that arises in the first six weeks of life. Some differential diagnoses may be difficult such as bacterial cellulitis or erysipelas. The prognosis is usually favorable but there are serious complications for which the patient must be regularly monitored, especially hypercalcemia. We report a case of a full-term newborn with a liquidated area of subcutaneous fat necrosis. A surgical incision was performed because of the discomfort and the lack of regression. Hypercalcemia and nephrocalcinosis appeared afterward. A set of clinical, biological, and histological arguments allows the diagnosis of subcutaneous fat necrosis. Follow-up to early detection and to manage such complications is necessary.

Congenital Arhinia: A Neonatal Case Report.

Congenital arhinia or nasal absence is a rare condition, with only less than 100 cases published in the literature to date. It is a rare condition that causes respiratory distress during the neonatal period. Although stabilization of the airway is the priority, management is not clearly defined, given the rarity of the malformation. We report a case of arhinia in a female newborn and briefly review the literature.

Acral blisters in neonates: Three rare and benign diseases.

Exclusive acral involvement in neonatal pemphigus is unusual. Blisters in neonatal bullous pemphigoid, affecting 2%-3% of newborns of mothers with gestational pemphigoid, can be located in the trunk, limbs and acral areas. Unlike neonatal bullous pemphigoid, which can appear up to 5 days after birth, neonatal pemphigus is often revealed at birth. They are benign diseases in newborns. There is no correlation between the disease severity in babies and mothers. Neonatal risk is dominated by the side effects of corticosteroid therapy.

Treacher Collins syndrome: A case report and review of literature.

Treacher Collins syndrome (TCS) is one of the rare genetic syndromes which is specified by symmetrical craniofacial dysmorphism without growth abnormalities or neurological disorders. The inheritance is usually autosomal dominant but sometimes it is a sporadic mutation. Prenatal diagnosis could be realized by genetic testing of a chorionic villus sample or amniocentesis if one of the parents is affected. At birth, the most common features are downward-sloping palpebral clefts, small badly hemmed and folded ears, and mandibular hypoplasia which could lead to respiratory distress. All of these clinical features exist in our case. Goldenhar syndrome shares with TCS some facial features which are not symmetrical and it is also associated with vertebral abnormalities. Some patients with TCS are exposed to many complications and they require multi-disciplinary medical care. But all of them need psychiatric care to fight social rejection. The aim of our report is to describe the most common features of TCS and similar syndromes. Also, report the involved genetic mutations, some associated complications, and their management.