Cleft Palate Association described for the first time in a rare Molybdenum Cofactor Deficiency Type B newborn case
Year: 2025
Type: article
Study design: Case Report
Abstract: Molybdenum Cofactor Deficiency (MoCD) is an autosomal recessive inherited congenital metabolic disease with rare and serious clinical findings. Clinically, neurological findings such as lethargy, hypotonia, and seizures are observed. Clinical findings may be seen immediately or days after birth. It is necessary to distinguish it quickly from hypoxic-ischemic encephalopathy (HIE), which may present with neurological findings immediately after birth and require urgent treatment. Here, we present our patient who had HIE-like clinical findings immediately after birth and was quickly diagnosed with MoCD by laboratory and brain magnetic resonance (MRI). During the follow-up of our patient, the diagnosis was confirmed with the Molybdenum cofactor synthesis 2 (MOCS2) Type B (c.226G>A, (p.G76R) (p.Gly76Arg) mutation, which was genetically identified in a small number of cases. Additionally, our case is the first case in which MoCD was accompanied by a cleft palate. Our aim in presenting the case is to emphasize the importance of distinguishing the conditions that cause neonatal encephalopathy immediately after birth and not to give therapeutic hypothermia treatment inappropriately due to an incorrect diagnosis of hypoxic-ischemic encephalopathy.
Institution: Ankara Bilkent City Hospital
Language: English
Subfield: Clinical Biochemistry
Domain: Life Sciences
Open Access status: bronze
OpenAlex ID: W4414832623