Dual diagnosis of Ochoa syndrome and Niemann-Pick disease type B in a consanguineous family
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Hande Nur Cesur Baltacı
,
Elifcan Taşdelen
Abstract
Objectives
Ochoa syndrome (UFS1; Urofacial syndrome-1) is a very rare autosomal recessive disorder caused by mutations in the HPSE2 gene that results bladder voiding dysfunction and somatic motor neuropathy affecting the VIIth cranial nerve. Niemann-Pick disease is a rare autosomal recessive lysosomal storage disorder with systemic involvement resulting from sphingomyelinase deficiency and generally occurs via mutation in the sphingomyelin phosphodiesterase-1 gene (SMPD1).
Case presentation
Here, we report a 6-year-old girl with symptoms such as urinary incontinence, recurrent urinary tract infections, peculiar facial expression, mainly when smiling, hypertelorism, constipation, incomplete closure of eyelids during sleep and splenomegaly. Homozygote mutations in two different genes responsible for two distinct syndromes were detected in the patient. Homozygous NM_000543.5:c.502G>A (p.Gly168Arg) mutation was found in the SMPD1 gene causing Niemann-Pick disease. In addition, some of the clinical features were due to a novel homozygous mutation identified in the HPSE2 gene, NM_021828.5:c.755delA (p.Lys252SerfsTer23).
Conclusions
Here, we discuss about the importance of considering dual diagnosis in societies where consanguineous marriages are common. Accurate diagnosis of the patient is very important for the management of the diseases and prevention of complications.
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Research funding: None declared.
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Author contributions: Hande Nur Cesur Baltacı wrote the first draft of the manuscript and did the clinical evaluation of the patient. Vehap Topçu and Elifcan Taşdelen performed laboratory tests. Halil Gürhan Karabulut and Fatma Tuba Eminoğlu revised and contributed the final form of the manuscript.
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Competing interests: The funding organization(s) played no role in the study design; in the collection, analysis, and interpretation of data; in the writing of the report; or in the decision to submit the report for publication.
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Informed consent: Informed consent forms were obtained from the parents of the patients for publication of the cases, including images.
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Disclosure statement: The authors have no conflicts of interest to declare.
References
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Articles in the same Issue
- Frontmatter
- Editorial
- Covid19 pandemic and pediatric endocrinology and metabolism—Are we through with it?
- Original Articles
- Invisible burden of COVID-19: enzyme replacement therapy disruptions
- Anthropometric, biochemical and hormonal profiles of the partially admixed pygmoid group in Rampasasa (Flores, Indonesia)
- Etiologies, profile patterns and characteristics of children with short stature in Jordan
- Sexual maturity assessment in Indian children—a study from western India
- Bone density and bone health alteration in boys with Duchenne Muscular Dystrophy: a prospective observational study
- Sensory, voluntary, and motor postural control in children and adolescents with mucopolysaccharidosis
- Prevalence and MRI findings of incidentally detected pituitary non-enhancing lesion on brain MRI in children
- Oral glucose tolerance response curve predicts disposition index but not other cardiometabolic risk factors in healthy adolescents
- Early menarche is associated with insulin-resistance and non-alcoholic fatty liver disease in adolescents with obesity
- Liraglutide combined with intense lifestyle modification in the management of obesity in adolescents
- Exploring the inter-subject variability in the relationship between glucose monitoring metrics and glycated hemoglobin for pediatric patients with type 1 diabetes
- Screening for asymptomatic diabetes and metabolic comorbidities in pediatric patients during therapy for acute lymphoblastic leukemia
- Frequency and characterization of mutations in genes in a large cohort of patients referred to MODY registry
- Experience with the targeted next-generation sequencing in the diagnosis of hereditary hypophosphatemic rickets
- Newborn screening and molecular features of patients with multiple acyl-CoA dehydrogenase deficiency in Quanzhou, China
- Case Reports
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- Severe hypercalcemia in an infant with unbalanced translocation of chromosomes 2 and 8: a possible contribution of 2p duplication
- Epileptic phenotype in late-onset hyperinsulinemic hypoglycemia successfully treated by diazoxide
- Precocious sexual development in a male toddler caused by unrecognized transdermal exposure to testosterone: case report and review of the literature
