PMID- 30629863
OWN - NLM
STAT- MEDLINE
DCOM- 20190306
LR  - 20190306
IS  - 0033-2658 (Print)
IS  - 0033-2658 (Linking)
VI  - 119
IP  - 1
DP  - 2017
TI  - [An Adult Case of 22q11.2 Deletion Syndrome with Congenital Abnormalities and 
      Neurodevelopmental Disorders, Which Remained Undiagnosed Until Presentation of 
      Auditory Hallucinations].
PG  - 9-16
AB  - 22q11.2 deletion syndrome (22q11.2 DS) is characterized by cardiac defects, 
      abnormal facial features, thymic hypoplasia, cleft palate, and hypocalcemia, 
      including DiGeorge syndrome (DGS), velocardiofacial syndrome (VCFS), and 
      conotruncal anomaly face (CTAF) syndrome. Psychiatric symptoms were recently 
      shown to be very common in patients with 22q11.2 DS, prompting greater interest 
      in this syndrome. Early diagnosis during childhood based on a con- stellation of 
      physical features is optimal ; however, as some patients remain undiagnosed until 
      the presentation of other symptoms in adult life, psychiatrists are well advised 
      to familiarize themselves with basic information concerning 22q11.2 DS. A 
      25-year-old woman presenting with auditory hallucinations was referred to A 
      hospital for examination and treatment. Her family history revealed both paternal 
      and maternal rela- tives with schizophrenia. At birth, she presented a cleft 
      palate and ventricular septum defect. She first became ambulatory at age 4 and 
      became verbal a year later. Her intelligence quotient was estimated at around 40 
      and mental retardation (DSM-IV) with autistic features was diag- nosed at age 7. 
      After graduating from a special high school, she obtained fulltime employment in 
      a workshop. However, auditory hallucinations began disrupting her life from 22 
      years of age. Although olanzapine temporarily alleviated her symptoms, the 
      resultant extrapyramidal symp- toms worsened and she was referred to A hospital 
      again at age 25. The patient presented with micrognathia and a flat nasal root 
      and spoke a maximum of 3 words per sentence in a very high and indistinct tone. A 
      cardiac defect (ventricular septal defect), scoliosis, and low platelets were 
      also observed. The diagnosis of 22qll.2 DS was confirmed using fluorescence in 
      situ hybridization (FISH). The patient and her family were subsequently 
      introduced to a 22q11.2 DS patients' support group. Careful genetic counseling is 
      paramount, but the diagnosis of 22q11.2 DS can make updated information, official 
      aid, and access to support groups available to patients and their family. 
      Emergency complications such as seizures due to hypocalcemia can also be 
      anticipated. The comparatively late diagnosis of 22q11.2 DS in our patient, which 
      went undetected until the presentation of auditory hallucinations, in the context 
      of mental retardation with autis- tic features (DSM-IV) underscores the 
      importance of detailed clinical observation. "One rare variant" possibly points 
      out the essence of psychiatric pathophysiology. Moreover, 22q11.2 DS has been 
      listed as an intractable disease in Japan since 2015. When patients present with 
      neurodevelopmental disorders and schizophrenic symptoms, we should carefully 
      observe their physical features for clues to the possible diagnosis of 22q11.2 
      DS.
FAU - Tamune, Hidetaka
AU  - Tamune H
FAU - Nishimura, Fumichika
AU  - Nishimura F
FAU - Koshiyama, Daisuke
AU  - Koshiyama D
FAU - Yamada, Katsuhisa
AU  - Yamada K
FAU - Kondo, Shinsuke
AU  - Kondo S
FAU - Kano, Yukiko
AU  - Kano Y
FAU - Kasai, Kiyoto
AU  - Kasai K
LA  - jpn
PT  - Case Reports
PT  - Journal Article
PL  - Japan
TA  - Seishin Shinkeigaku Zasshi
JT  - Seishin shinkeigaku zasshi = Psychiatria et neurologia Japonica
JID - 9801787
SB  - IM
MH  - Adult
MH  - *Chromosomes, Human, Pair 22
MH  - DiGeorge Syndrome/*complications
MH  - Female
MH  - Hallucinations/*complications
MH  - Humans
MH  - Neurodevelopmental Disorders/*complications
MH  - Schizophrenia/*complications
EDAT- 2017/01/01 00:00
MHDA- 2017/01/01 00:01
CRDT- 2019/01/11 06:00
PHST- 2019/01/11 06:00 [entrez]
PHST- 2017/01/01 00:00 [pubmed]
PHST- 2017/01/01 00:01 [medline]
PST - ppublish
SO  - Seishin Shinkeigaku Zasshi. 2017;119(1):9-16.