Global Journal of Medical Research, A: Neurology & Nervous System, Volume 23 Issue 3

22 Year 2023 Global Journal of Medical Research Volume XXIII Issue III Version I ( D ) A © 2023 Global Journals A Case of GM 1 Gangliosidosis Type 2 Mimicking Zellweger Syndrome II. E thical A pproval The patient’s mother consented to the publication of this deidentified case report. Institutional review board approval is not required for deidentified single case reports or histories based on institutional policies. III. C linical S ummary We describe a case of an 8-month-old baby who was identified as having Type 2 GM-1 Gangliosidosis. After an uneventful first pregnancy, the patient was the third child of the consanguineous, healthy parents. His older sister appears to be completely normal. The patient had an inguinal hernia, which was discovered during the prenatal ultrasound screening. The patient was once sent to the hospital at the age of 2 months for a hernia operation, during which it was discovered that he had breathing problems. However, with proper measures the surgical procedure was conducted and the patient was shifted to the ICU for a day. Gradually the patient became better with continuous nebulization and was finally discharged. At 8 months of age, the patient’s parents again reported to the hospital with complaints of difficulty in breathing, periorbital puffiness and fever since 3 days in the child. The mother also noticed that the baby was having difficulty in sucking milk and drinking and used to intermittently stop feeding. An increased incident of sweating was observed in the baby while feeding. Upon taking the history, it was revealed that the baby had a running nose and history of cough at 5 months of age for which he had taken treatment from a pulmonologist. Upon examination, it was found that the infant showed clinical signs of pneumonia, bilateral hydrocele, macrocephaly, dolichocephaly, frontal bossing, hypotonia, rickets, and global developmental delay [FIGURE 1] A Zellweger syndrome suspect was identified. Morphological features of the face and exhibition of hypotonia The infant was found to have bilateral enlarged kidneys and hepatosplenomegaly upon abdominal examination. There was also a slight ascites present. The brain's magnetic resonance imaging (MRI) revealed widespread corpus callosum thinning, moderately dilated bilateral occipital horns, and insufficient myelination in parieto-occipital white matter. The infant screened positive for rickets, bicytopenia, and severe anaemia in the lab. He had stage 2 hypotension, a well- functioning dilated left ventricle, mild pericardial effusion, and bilateral pleural effusion, according to his echocardiography. The patient's symptoms were controlled while a confirmative diagnosis was made through gene testing. A homozygous single base pair deletion in exon 10 of the GLB1 gene, which causes a frameshift and an early truncation of the protein 11 amino acids downstream to codon 327, was discovered, according to the gene report. Another homozygous 2-base pair deletion in exon 11 of the CEP41 gene was discovered