Mohamed Abdikarin Ahmed, Hagos Hindeya Hailu, Seyoum Dawit, Hadgu Amanuel
Department of Pediatrics and Child Health, College of Health Science, Mekelle University, Tigray, Ethiopia.
SAGE Open Med Case Rep. 2024 Aug 16;12:2050313X241274981. doi: 10.1177/2050313X241274981. eCollection 2024.
Goltz syndrome is a rare condition characterized by thinning of the skin, which leads to the herniation of fat and results in both skin and systemic abnormalities. The primary cause of this syndrome is the mutation of the PORCN gene, which is associated with the X chromosome. A newborn baby was admitted to the neonatal intensive care unit due to skeletal and skin abnormalities. The major findings in this patient included anophthalmia, microform cleft lip, subcutaneous fat herniation, and split foot. An abdominal ultrasound examination revealed a solitary right kidney and an echocardiogram showed patent ductus arteriosus. The patient was treated for neonatal sepsis, and the family received counseling about the disease. We report this case because of its exceptional rarity.
戈尔茨综合征是一种罕见疾病，其特征为皮肤变薄，进而导致脂肪疝出，并引发皮肤和全身异常。该综合征的主要病因是位于X染色体上的PORCN基因突变。一名新生儿因骨骼和皮肤异常被收治入新生儿重症监护病房。该患者的主要检查结果包括无眼畸形、微小型唇裂、皮下脂肪疝出和裂足。腹部超声检查显示右肾孤立，超声心动图显示动脉导管未闭。该患者接受了新生儿败血症治疗，其家属也接受了关于该疾病的咨询。我们报告此病例是因其极为罕见。
