A fourth case of Feingold syndrome type 2: psychiatric presentation and management.
Feingold syndrome (FGLDS1) is an autosomal dominant disorder caused by mutations in the MYCN oncogene on the short arm of chromosome 2 (2p24.1). It is characterised by microcephaly, digital abnormalities, oesophageal and duodenal atresias, and often learning disability or mental retardation. In 2011, individuals sharing the skeletal abnormalities of FGLDS1 but lacking mutations in MYCN, were found to harbour hemizygous deletions of the MIR17HG gene on chromosome 13q31.3. These individuals share many of the characteristics of FGLDS1 except for gastrointestinal atresia. The condition was termed Feingold syndrome type 2 (FGLDS2). We describe the presentation and management of a fourth known case of FGLDS2 in an 18-year-old girl with microcephaly, short stature, mildly dysmorphic features, digital malformations and significant cognitive and psychiatric symptoms. Comparative genomic hybridisation array testing confirmed a 7.4 Mb microdeletion in chromosome region 13q31.1q.31.3 corresponding to the MIR17HG gene.
Department of Psychiatry, University of Western Ontario, London, Ontario, Canada.
Hooman
H
Ganjavi
Department of Paediatrics, University of Western Ontario, London, Ontario, Canada Department of Biochemistry, University of Western Ontario, London, Ontario, Canada.
Victoria Mok
VM
Siu
Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Ontario, Canada.
Marsha
M
Speevak
Brain and Mind Institute, University of Western Ontario, London, Ontario, Canada Department of Clinical Neurological Sciences, University of Western Ontario, London, Ontario, Canada.
Penny Anne
PA
MacDonald
D000293:Adolescent; D014150:Antipsychotic Agents / Q000627:therapeutic use; D001008:Anxiety Disorders / Q000150:complications / Q000175:diagnosis* / Q000188:drug therapy; D005143:Eyelids / Q000002:abnormalities*; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D008607:Intellectual Disability / Q000150:complications / Q000175:diagnosis* / Q000628:therapy; D017880:Limb Deformities, Congenital / Q000150:complications / Q000175:diagnosis* / Q000628:therapy; D008831:Microcephaly / Q000150:complications / Q000175:diagnosis* / Q000628:therapy; D019964:Mood Disorders / Q000150:complications / Q000175:diagnosis / Q000188:drug therapy; D009771:Obsessive-Compulsive Disorder / Q000150:complications / Q000175:diagnosis* / Q000188:drug therapy; D035583:Rare Diseases; D018570:Risk Assessment; D012720:Severity of Illness Index; D014138:Tracheoesophageal Fistula / Q000150:complications / Q000175:diagnosis* / Q000628:therapy
D014150:Antipsychotic Agents