A case report of neonatal diabetes due to neonatal hemochromatosis.

A 6-week-old girl, the first child of non-consanguineous parents, was admitted to the hospital for evaluation of vomiting. She was small for gestational age (1500 g). On admission, she weighed 1830 g, and appeared dehydrated. The blood glucose was 880 mg/dL. Insulin and C-peptide levels were <1 microIU/ml and 0.1 pmol/L, respectively. Antibodies of diabetes were negative. The serum triglyceride level was markedly elevated (5322 mg/dL). After a few days of insulin therapy, the triglyceride levels dramatically decreased, but cholestasis persisted. A liver biopsy revealed diffuse iron deposition and the diagnosis of neonatal hemochromatosis was established. In neonatal hemochromatosis, diabetes may occur as a result of iron deposition in the pancreas. The coexistence of neonatal diabetes secondary to neonatal hemochromatosis with a fatal course during the infancy period has not been previously reported. In this report, an infant with neonatal diabetes secondary to neonatal hemochromatosis is presented as the first case in the literature involving the coexistence of these two conditions.

Two siblings with tyrosinaemia type 2.

UNLABELLED: We report on two siblings with tyrosinaemia type 2, a 6-year-old girl and her 3.5-year-old brother with a main complaint of painful palmo-plantar hyperkeratosis. The boy presented also conjunctival injection, photophobia, lacrimation and conjunctivitis. Blood tyrosine levels were increased in both patients, 150.6 and 202.3 micro mol/dl, respectively (reference value: 5.8+/-2.2 micro mol/dl). After 1 month of dietary treatment with low protein, low phenylalanine and tyrosine, tyrosine levels decreased to 37.7 and 65.6 micro mol/dl, respectively; the cutaneous lesions improved in both of them, and conjunctivitis disappeared. CONCLUSION: the association of bilateral ulcero-conjunctivitis with photophobia and palmo-plantar hyperkeratosis since early infancy is the clue to the diagnosis of tyrosinaemia type 2.