Rare Pair: HI and Kabuki Syndrome

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HI Hope

Low blood sugar is one of the symptoms of Kabuki syndrome, a genetic disorder that affects multiple systems in the body but can be tricky to diagnose. If the child’s hypoglycemia is persistent and is diagnosed as congenital hyperinsulinism (HI), it might be worth talking to a geneticist about a possible dual diagnosis of HI and Kabuki syndrome.

Research at Children’s Hospital of Philadelphia (CHOP) suggests that Kabuki syndrome (KS) may account for as many as 1% of patients diagnosed with HI. This connection prompted the Congenital Hyperinsulinism Center at CHOP to add the two genes for KS to the genetic testing panel it uses for HI, helping families learn earlier if, indeed, their child has both conditions.

Because one characteristic of Kabuki syndrome is mild to moderate intellectual disability, it’s critical to identify and manage low blood sugars as soon as possible to prevent worsening any intellectual disability.

At CHOP, children with the dual diagnosis of HI and KS are managed initially by the Congenital Hyperinsulinism Center to control their hypoglycemia. Children can usually be managed with medication. Later, children can be seen in the Kabuki Syndrome Endocrinology Clinic or the Kabuki Syndrome Clinic, where an endocrinologist is on the multidisciplinary team that also includes a geneticist and a gastroenterologist.


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