Mucopolysaccharidosis type IIIB (Sanfilippo's B; OMIM no.: 252920) is a lysosomal storage disorder caused by defective degradation of heparan sulfate. The enzyme that has decreased function in this disease is α-N acetylglucosaminidase. This enzyme is encoded by the NAGLU gene. A 9-year-old male patient was referred to us with speech disability, developmental delay, hepatomegaly, mild learning disability, and otitis media with effusion complaints. Whole exome sequencing (WES) was performed because of consanguinity between the parents of the patient and the lack of specific prediagnosis. As a result of the patient's WES analysis, a homozygous mutation was detected in the NAGLU gene. The leukocyte enzyme activity was then evaluated to confirm the diagnosis. Alpha-N acetylglucosaminidase deficiency was found. Alpha-N acetylglucosaminidase activity was 0.2 nmol/mLh. WES is a successful diagnostic method in the diagnosis of the mild clinical diseases with recessive inheritance. In addition, our case is a good example of genotype to phenotype diagnosis. Because in storage diseases, the diagnosis is made by leukocyte enzyme analysis first, and then the result is confirmed by gene analysis. The opposite situation occurred in our case.
Background: Spastic paraplegia 11 (SPG11) is defined as progressive spasticity and weakness of the lower limbs and also associated with mild intellectual disability with learning difficulties in childhood and/or progressive cognitive retardation, peripheral neuropathy, pseudobulbar symptoms, and increased reflexes in the upper limbs. We describe the clinical, laboratory, and radiological presentation of SPG11 through a report of a case and compare with previously reported SPG11 cases in the literature. Case presentation: This case presents a homozygous variant in the SPG11 gene (NM_025137.4): c.1699C>T; p.(Gln567*). Conclusion: The diagnosis was made based on molecular findings, thinning of corpus callosum (TCC) and in most cases, periventricular white matter abnormalities are detected in brain MRI. Therefore, the clinical and radiological findings are supporting the diagnosis. However, it should not be forgotten that TCC is not peculiar to SPG11.
Introduction: Cerebellar dysplasia with cysts (CDC) is an imaging finding which is typically seen with in individuals with dystroglycanopathy. One of the diseases causing this condition is “Poretti-Boltshauser Syndrome; PTBHS” (OMIM #615960). Homozygous or compound heterozygous mutations in the LAMA1 gene cause this disease. Case presentation: 7 years old twin siblings consulted to the medical genetics department because of walking problems and cerebellar examination findings. Management and Outcome: Clinical and radiological findings of the patient suggested a syndrome with recessive inheritance. Whole exome sequencing (WES) test was performed for definitive diagnosis. As a result of the patient’s WES analysis, a homozygous mutation was detected in the LAMA1 gene. Discussion: When determining the inheritance pattern of genetic diseases, if parents have consanquinity, this situation leads us to recessive inheritance diseases. Even if we are not consanquinity, but they say the same village, it is necessary to pay attention to the diseases of the recessive group. Whole exome sequencing analysis results in large amount of data generation. A good clinical evaluation is required to detect the mutation as a result of large data. To understand what we have found, we need to know what we are looking for.
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