Catch 22 Syndrome – 22q11 Deletion

Catch 22 syndrome – 22q11 deletion

Catch 22 syndrome or 22q11 deletion is likely if there are dysmorphic features and arterial anomalies in Tetralogy of Fallot like right aortic arch and pulmonary artery branch stenosis. It is associated with mental retardation, which may be mild.

While reporting two cases of the syndrome, Yoshiyuki Yonehara and associates, mentioned that in addition to cardiac anomalies, abnormal facial features, hypoplasia of thymus, cleft palate and hypocalcemia can occur. It also includes DiGeorge syndrome, conotruncal anomaly face syndrome, and velocardiofacial syndrome. So it is a syndrome which is a constellation of syndromes [1].

D I Wilson and associates while reporting 44 cases of DiGeorge syndrome proposed that it should be considered as the severe end of the clinical spectrum of Catch 22 [2]. DiGeorge syndrome is characterised by infections due to deficient T cell mediated immunity.

Neurological disorders other than cognitive disorders are uncommon in chromosome 22q11 deletion. A Roubertie and associates reported 3 patients who presented with neurological disorders [2]. One patient had a autistic disorder while the second had hypocalcemica neonatal seizures with a persistent epileptic focus on electrencephalographic follow up. The third patient had atypical absence epilepsy.

References

1. Yoshiyuki Yonehara, Takashi Nakatsuka, Shigeru Ichioka, Nozomu Sasaki, Toshiki Kobayashi. J Craniofac Surg. 2002 Sep;13(5):623-6.
2. D I Wilson, J Burn, P Scambler, J Goodship. DiGeorge.  J Med Genet. 1993 Oct;30(10):852-6.
3. A Roubertie, M Semprino, A M Chaze, F Rivier, V Humbertclaude, R Cheminal, G Lefort, B Echenne. Brain Dev. 2001 Dec;23(8):810-4.