Unusual Presentation of Adrenal Hypoplasia Congenita
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SCIENTIFIC LETTER
Unusual Presentation of Adrenal Hypoplasia Congenita Rangan Srinivasaraghavan 1 & Anbazhagan Jagadeesh 2 & Sangeetha Yoganathan 3 & Sarah Mathai 4 & Samuel Philip Oommen 1 Received: 29 December 2019 / Accepted: 4 February 2020 # Dr. K C Chaudhuri Foundation 2020
1
Developmental Pediatrics Unit, Department of Child Health, Christian Medical College, Vellore, Tamil Nadu, India
2
Department of Pediatrics, Mahatma Gandhi Medical College and Research Institute, Puducherry, India
2.6 mcg/dl (normal range: 7-25 mcg/dl) and 1 h post ACTH serum cortisol was 2.6 mcg/dl. Plasma very long chain fatty acids were normal as was 17-hydroxy progesterone levels. Clinical exome sequencing showed a frameshift mutation due to a hemizygous four base pair duplication in exon 1 of the NR0B1 gene (p.Val246AlafsTer54;ENST00000378970) that results in premature truncation of the protein, confirming the diagnosis of X-linked Adrenal hypoplasia congenita (AHC). The child was treated with zonisamide, hydrocortisone, fludrocortisone and behavioral therapy from our hospital. Clinical improvement and biochemical normalization were documented. Developmental assessment after one year of therapy was normal. Zonisamide was later tapered and stopped on a further follow-up visit. AHC is a rare adrenal disorder caused by deletion or mutation of nuclear receptor subfamily 0, group B, member 1 (NR0B1) gene with an estimated prevalence of 1:70,000– 1:600,000 [1]. Aldosterone deficiency symptoms usually precede cortisol deficiency symptoms and therefore features of salt-wasting are predominant as seen in our case [1]. Hyponatremia occurs in both cortisol and mineralocorticoid deficiency while hyperkalemia occurs in latter [2]. Hyponatremia was consistently documented in our case but was attributed to vomiting and dehydration in the previous admissions. In adrenal insufficiency, a diagnostic delay may occur despite biochemical abnormalities [3]. Behavioral and mood changes have been described in children with Addison’s disease [4]. Skin hyperpigmentation was not obviously striking due to the dark skin color in the family. It is noteworthy that children presenting with unexplained episodes of encephalopathy, seizures and behavioral disorder must be evaluated with serum electrolytes to identify an underlying treatable cause.
3
Department of Neurological Sciences, Christian Medical College, Vellore 632004, Tamil Nadu, India
Compliance with Ethical Standards
Pediatric Endocrinology Division, Department of Child Health, Christian Medical College, Vellore, Tamil Nadu, India
Conflict of Interest None.
To the Editor: A four-year-old boy was referred for the evaluation of aggressive and self-injurious behavior of six months duration. There were multiple episodes of vomiting, lethargy and severe dehydration triggered by minor febrile illnesses in the past. He was symptomatically treated for dehydration and had made a complete recovery to the pre-illness state after treatment. Child had three episodes of fever provoked generalized tonic-clon
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