A teenager with hyperglycemia and hypernatremia

Dr  Ira Shah

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A teenager with hyperglycemia and hypernatremia

Dr Ira Shah.

Medical Sciences Department, Pediatric Oncall, Mumbai, India.

ADDRESS FOR CORRESPONDENCE
Dr Ira Shah, Medical Sciences Department, Pediatric Oncall, 1, B Saguna, 271, B St. Francis Road, Vile Parle {W}, Mumbai 400056.

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Clinical Problem
A 13 years old boy first born of non-consanguineous marriage presented with abdominal pain and bodyache since 3 days. Parents took him to a general practitioner for his complaints and a urine test was done that showed 4+ glucosuria. The doctor did a random blood sugar (RBS) which was 716 mg%. He was then referred for further management.
On enquiry, there was a history of polyuria and polydipsia since one and a half years of age. However, there were no episodes of unconsciousness in the past. Parents also complained that he had depression and apathy since 3 months for which he was being treated with Imipramine and Clobazam. There was no history of convulsions but he had multiple staring episodes (50-60 times/day) since last 3 months. An EEG done at that time showed generalized neuronal hyperexcitability. He also had delayed mental milestones with an IQ of 67. Family history was not contributory. On examination, he was severely dehydrated but still polyuric (urine output = 10 cc/kg/hour). Systemic examination was normal and he was conscious and oriented. His RBS on presentation was 553 mg% and serum sodium was 186 mmoL/L with normal serum potassium and chloride. His serum osmolality was elevated (384.1 mosm/kg) whereas simultaneous urine osmolality was 166.2 mosm/kg. Serum ADH level was 4 which was in the lower normal range. His glycated hemoglobin showed elevated level [10.84% (Normal = 4 to 6%)]. His ophthalmology and hearing assessment was normal. He was treated with IV fluids, Inj Insulin and DDAVP nasal spray to which his blood glucose and serum sodium decreased and polyuria got under control.

What is the diagnosis?

Discussion
This child seems to have Diabetes Mellitus and Diabetes Insipidus with neuropsychiatric problems. His Low normal ADH was suggestive of central diabetes insipidus (ADH remaining normal inspite of severe hypernatremia and hyperosmolar extracellular fluid compartment). His elevated glycated Hemoglobin is suggestive of long standing diabetes mellitus. Thus, this is a child with Diabetes Insipidus, Diabetes Mellitus, neuropsychiatric problems suggestive of DIDMOAD syndrome.

DIDMOAD syndrome also known as Wolfram syndrome is a rare genetic disorder characterized by Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy and Deafness. Wolfram syndrome was first described by Dr. Wolfram in 1938 by reporting 4 siblings with the combination of juvenile-onset diabetes mellitus and optic atrophy. Since then over 170 cases have been published in literature. It is found that 100% of children develop diabetes mellitus and optic atrophy by 9 years of age. Though our child had diabetes mellitus of early onset, he did not have optic atrophy inspite of being 13 years of age. Diabetes Insipidus is seen in 70% of affected children usually in the second decade of life and deafness is also seen in about 66% of affected patients usually in the second decade of life. Our patient did have diabetes insipidus. Other problems seen with DIDMOAD syndrome are neurological symptoms such as ataxia, depression, psychosis, startle myoclonus and brain stem affection; neurodegenerative complications of the urinary bladder; digestive system complications such as recurrent constipation/diarrhea and cardiac abnormalities such of arrhythmia. Our patient did have neuropsychiatric complications and neuronal hyperexcitability. The average life expectancy of patients with Wolfram syndrome is 30 years (range is 25-49 yrs) and death occurs due to central respiratory center failure, renal failure, hypoglycemic attacks, seizures, aspiration and in some cases due to suicide.

Compliance with ethical standards

Funding: None

Conflict of Interest: None

Cite this article as:
Shah I. A teenager with hyperglycemia and hypernatremia. Pediatr Oncall J. 2005;2.