Two Patients with Kabuki Syndrome Presenting with Endocrine Problems

Abstract

A 4 year-old boy with mental retardation and seizures presented to the pediatric endocrinology clinic because of a history of hypoglycemia; a 16 month-old girl with developmental delay presented with bilateral breast tissue enlargement; in both, a diagnosis of Kabuki syndrome was made because of typical facial features, neurodevelopmental delay and other stigmata consistent with Kabuki syndrome. Kabuki syndrome is a mental retardation-malformation syndrome affecting multiple organ systems with a broad spectrum of abnormalities. The facial features of the syndrome are specific and independent of ethnic origin. In addition to presenting with endocrine problems, the patients reported here exhibit some novel findings such as congenital alopecia areata and hyperpigmented skin lesion. The diagnosis of Kabuki syndrome should be considered in patients with hypoglycemia or premature thelarche when associated with developmental delay and a peculiar facies.

Atypical findings in Kabuki syndrome: Report of 8 patients in a series of 20 and review of the literature

“…Neonatal hypoglycemias were described in 21 KS patients but persistent hypoglycemia was reported in only 4 patients [Niikawa et al, 1988;Bay et al, 1993;Bereket et al, 2001;Ming et al, 2001a]. Hyperinsulinism was suspected in one patient [Ming et al, 2001a].…”

Alopecia Areata in Infants and Newborns

“…Other causes of circumscribed hair loss to be considered include congenital nevi, congenital triangular alopecia, aplasia cutis congenita, underlying meningocele or cystic lesion, and hair loss associated with complex developmental disorders (1,11,13). One such disorder is Kabuki syndrome, a mental retardation and malformation syndrome with characteristic facial features and multiple organ system effects, which has been associated with circumscribed congenital alopecia (14,15). Many hereditary syndromes associated with generalized absence of hair can be ruled out if the skin, teeth, and nails are otherwise normal and the child is without dysmorphic facies or deformity (11).…”

Kabuki syndrome: a review

“…A number of endocrinologic abnormalities have been described in patients with KS. The most common finding, which is present in about onequarter of females with KS, is isolated premature thelarche, with breast development as early as 4 months of age (3,10,20,22,52,53); however, true central precocious puberty has also been rarely reported (28,35,53). Pescovitz et al theorized that premature thelarche and central precocious puberty represented different ends of the spectrum of precocious activation of the hypothalamic luteinizing hormone-releasing hormone (LHRH) neurons (54).…”

“…Growth hormone deficiency, hypoglycemia, congenital hypothyroidism, and insulin-dependent diabetes mellitus are all rare findings in KS (3,13,18,20,22,52,55), and at least one patient has been reported with primary ovarian dysfunction resulting in markedly delayed sexual development (38).…”