Dual diagnosis of Ochoa syndrome and Niemann-Pick disease type B in a consanguineous family

CESUR BALTACI H. N., Tasdelen E., Topcu V., EMİNOĞLU F. T., KARABULUT H. G.

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, cilt.34, sa.5, ss.653-657, 2021 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 34 Sayı: 5
  • Basım Tarihi: 2021
  • Doi Numarası: 10.1515/jpem-2020-0367
  • Dergi Adı: JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, BIOSIS, CAB Abstracts, EMBASE, MEDLINE
  • Sayfa Sayıları: ss.653-657
  • Anahtar Kelimeler: HPSE2, Ochoa syndrome, SMPD1, Urofacial syndrome, ACID SPHINGOMYELINASE DEFICIENCY, UROFACIAL SYNDROME, MUTATIONS, BLADDER
  • Ankara Üniversitesi Adresli: Evet

Özet

Objectives: Ochoa syndrome (UFS1; Urofacial syndrome1) 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).