Ann Pediatr Endocrinol Metab.  2017 Jun;22(2):133-138. 10.6065/apem.2017.22.2.133.

Delayed diagnosis of 22q11 deletion syndrome due to late onset hypocalcemia in a 11-year-old girl with imperforated anus

• Yoo DY
• Kim HJ
• Cho KH
• Kwon EB
• Yoo EG

• KMID: 2383910
• DOI: http://doi.org/10.6065/apem.2017.22.2.133

Abstract

Neonatal hypocalcemia and congenital heart defects has been known as the first clinical manifestation of the chromosome 22q11.2 deletion syndrome (22q11DS). However, because of its wide clinical spectrum, diagnosis of 22q11DS can be delayed in children without classic symptoms. We report the case of a girl with the history of imperforate anus but without neonatal hypocalcemia or major cardiac anomaly, who was diagnosed for 22q11DS at the age of 11 after the onset of overt hypocalcemia. She was born uneventfully from phenotypically normal Korean parents. Imperforate anus and partial cleft palate were found at birth, which were surgically repaired thereafter. There was no history of neonatal hypocalcemia, and karyotyping by GTG banding was normal. At the age of 11, hypocalcemia (serum calcium, 5.0 mg/dL) and decreased parathyroid hormone level (10.8 pg/mL) was noted when she visited our Emergency Department for fever and vomiting. The 22q11DS was suspected because of her mild mental retardation and velopharyngeal insufficiency, and a microdeletion on chromosome 22q11.2 was confirmed by fluorescence in situ hybridization. The 22q11DS should be considered in the differential diagnosis of hypocalcemia at any age because of its wide clinical spectrum.

Keyword

22q11 Deletion syndrome; Hypocalcemia; DiGeorge Syndrome; Hypoparathyroidism; Imperforate anus

MeSH Terms

22q11 Deletion Syndrome*
Anal Canal*
Anus, Imperforate
Calcium
Child*
Cleft Palate
Delayed Diagnosis*
Diagnosis
Diagnosis, Differential
DiGeorge Syndrome
Emergency Service, Hospital
Female*
Fever
Fluorescence
Heart Defects, Congenital
Humans
Hypocalcemia*
Hypoparathyroidism
In Situ Hybridization
Intellectual Disability
Karyotyping
Parathyroid Hormone
Parents
Parturition
Velopharyngeal Insufficiency
Vomiting
Calcium
Parathyroid Hormone

Figure

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  Fig. 1 Fluorescence in situ hybridization analysis using DiGeorge region probe, Vysis LSI N25 (spectrum orange, 126 kb) and control chromosome probe that detects 22q13 outside the critical DiGeorge syndrome region, Vysis LSI ARSA (spectrum green, 334 kb), revealed a deletion of chromosome 22q11.2 by binding of 22q11.2 probe to only one chromosome in our patient.

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