Delayed diagnosis of 22q11 deletion syndrome due to late onset hypocalcemia in a 11-year-old girl with imperforated anus
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초록
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.
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.
참고문헌 (28)
- Bassett AS, "Practical guidelines for managing patients with 22q11.2 deletion syndrome", J Pediatr, 159, pp.332~339.e1 (2011)
- Hiéronimus S, "The spectrum of parathyroid gland dysfunction associated with the microdeletion 22q11", Eur J Endocrinol, 155, pp.47~52 (2006)
- Maalouf NM, "A case of chromosome 22q11 deletion syndrome diagnosed in a 32-year-old man with hypoparathyroidism", J Clin Endocrinol Metab, 89, pp.4817~4820 (2004)
- Cancrini C, "Clinical features and follow-up in patients with 22q11.2 deletion syndrome", J Pediatr, 164, pp.1475~1480.e2 (2014)
- Fomin AB, "DiGeorge syndrome: a not so rare disease", Clinics (Sao Paulo), 65, pp.865~869 (2010)
- Burnside RD, "22q11.21 Deletion syndromes: a review of proximal, central, and distal deletions and their associated features", Cytogenet Genome Res, 146, pp.89~99 (2015)
- Taylor SC, "Hypoparathyroidism and 22q11 deletion syndrome", Arch Dis Child, 88, pp.520~522 (2003)
- Nagasaki K, "Evaluation of parathyroid gland function using sodium bicarbonate infusion test for 22q11.2 deletion syndrome", Horm Res Paediatr, 75, pp.14~18 (2011)
- Fung WL, "Practical guidelines for managing adults with 22q11.2 deletion syndrome", Genet Med, 17, pp.599~609 (2015)
- Cuneo BF, "Evolution of latent hypoparathyroidism in familial 22q11 deletion syndrome", Am J Med Genet, 69, pp.50~55 (1997)
- Hasegawa T, "The transition from latent to overt hypoparathyroidism in a child with CATCH 22 who showed subnormal parathyroid hormone response to ethylenediaminetetraacetic acid infusion", Eur J Pediatr, 155, pp.255~ (1996)
- Cheung EN, "Prevalence of hypocalcaemia and its associated features in 22q11•2 deletion syndrome", Clin Endocrinol (Oxf), 81, pp.190~196 (2014)
- 황인혁, "Vitamin D deficiency in Korean children: prevalence, risk factors, and the relationship with parathyroid hormone levels", Annals of Pediatirc Endocrinology & Metabolism, 19(2), pp.86~90 (2014), 대한소아내분비학회
- Botto LD, "A population-based study of the 22q11.2 deletion: phenotype, incidence, and contribution to major birth defects in the population", Pediatrics, 112(1 Pt 1), pp.101~107 (2003)
- Lee JS, "The endocrine manifestations and growth of the patients with 22q11.2 microdeletion syndrome", J Korean Soc Pediatr Endocrinol, 9, pp.66~71 (2004)
- Friedman N, "Post-childhood presentation and diagnosis of DiGeorge syndrome", Clin Pediatr (Phila), 55, pp.368~373 (2016)
- Bassett AS, "Clinical features of 78 adults with 22q11 deletion syndrome", Am J Med Genet A, 138, pp.307~313 (2005)
- Wang C, "Anorectal malformation: the etiological factors", Pediatr Surg Int, 31, pp.795~804 (2015)
- Al-Mudaffer M, "Symptomatic anal anomalies in chromosome 22q11 deletion syndrome: a report of three patients", Pediatr Surg Int, 22, pp.384~386 (2006)
- Johnston PC, "DiGeorge syndrome presenting as late onset hypocalcaemia in adulthood", Ulster Med J, 77, pp.201~202 (2008)
- Özkale M, "22q11.2 microdeletion in two adolescent patients who presented with convulsion", Turk Pediatri Ars, 49, pp.70~73 (2014)
- Hyun JW, "Two cases of chromosome 22q11.2 deletion syndrome diagnosed in 12-year-old boys with hypocalcemic seizures", J Epilepsy Res, 2, pp.43~47 (2012)
- Nakada Y, "An adult case of 22q11.2 deletion syndrome diagnosed in a 36-year-old woman with hypocalcemia caused by hypoparathyroidism and Hashimoto's thyroiditis", Intern Med, 52, pp.1365~1368 (2013)
- Kambo JS, "Delayedonset hypoparathyroidism in an adolescent with chromosome 22Q11 deletion syndrome", Endocr Pract, 17, pp.e123~e125 (2011)
- Korpaisarn S, "Chromosome 22q11.2 deletion syndrome presenting as adult onset hypoparathyroidism: clues to diagnosis from dysmorphic facial features", Case Rep Endocrinol, 2013, pp.802793~ (2013)
- Eryılmaz SK, "A patient with 22q11.2 deletion syndrome: case report", J Clin Res Pediatr Endocrinol, 1, pp.151~154 (2009)
- 안영원, "13세에 처음 저칼슘혈증에 의한 경련을 보인 CATCH22 증후군 1례", Korean Journal of Pediatrics, 47(7), pp.794~798 (2004), 대한소아과학회
- Bassett AS, "Premature death in adults with 22q11.2 deletion syndrome", J Med Genet, 46, pp.324~330 (2009)