Hande Nur Cesur Baltacı1, Elifcan Taşdelen1, Vehap Topçu2, Fatma Tuba Eminoğlu3, Halil Gürhan Karabulut1. 1. Department of Medical Genetics, School of Medicine, Ankara University, Ankara, Turkey. 2. Department of Medical Genetics, Dr. Zekai Tahir Burak Women's Health Research and Education Hospital, Ankara, Turkey. 3. Department of Pediatric Metabolism, School of Medicine, Ankara University, Ankara, Turkey.
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.
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.
Authors: Glenda M Beaman; Filipa M Lopes; Aybike Hofmann; Wolfgang Roesch; Martin Promm; Emilia K Bijlsma; Chirag Patel; Aykut Akinci; Berk Burgu; Jeroen Knijnenburg; Gladys Ho; Christina Aufschlaeger; Sylvia Dathe; Marie Antoinette Voelckel; Monika Cohen; Wyatt W Yue; Helen M Stuart; Edward A Mckenzie; Mark Elvin; Neil A Roberts; Adrian S Woolf; William G Newman Journal: Front Genet Date: 2022-06-23 Impact factor: 4.772