Rare Case of a Child with Acute Intermittent Porphyria and a Genetic Skin Disorder Reported

Rare Case of a Child with Acute Intermittent Porphyria and a Genetic Skin Disorder Reported

Medical researchers in India have reported an unusual case of coexisting acute intermittent porphyria (AIP) and a genetic skin disorder in a 9-year-old boy.

The rare clinical case was described in the study, “A rare case of acute intermittent porphyria with ichthyosis vulgaris in a young boy,” which appeared in the Journal of Family Medicine and Primary Care.

The boy was hospitalized with abdominal pain, vomiting, and a tingling sensation in both legs that had lasted four days. He also had generalized convulsions, also known as tonic-clonic seizures, two hours before hospital admission.

A physical examination showed that he was responsive, with high blood pressure and a fast heart rate. He also had dry, peeling skin across his body, a condition also seen in one of his first cousins.

Based on these findings, the clinical team made a provisional diagnosis of hypertensive emergency with a genetic skin disorder known as congenital ichthyosis. Treatment started with the vasodilator Nitropress (sodium nitroprusside) to lower his blood pressure, and the anticonvulsant Dilantin (phenytoin) to control seizures.

Blood analysis revealed that the boy had slightly low levels of potassium and sodium, and no other alterations were noted. His urine was reddish, but not due to the presence of blood or muscle cells.

In light of these findings, the clinical team suspected that he could have acute intermittent porphyria, and analysis of urine for porphobilinogen (PBG) was performed. The lab work found that the patient’s PBG levels in his urine were 46 times the normal level.

After talking with the boy’s parents, the medical team concluded that the acute episode of porphyria could have been triggered by significant fasting during the Muslim holy month of Ramadan.

The researchers also performed a skin biopsy, which revealed that he had ichthyosis vulgaris, a common genetic skin disorder characterized by the accumulation of dead cells on the surface of the skin.

With that finding, the medical team treated the boy with 10% dextrose, which is a simple sugar, and Trandate (labetalol) to control high blood pressure. He also received saline solution to restore potassium and sodium levels.

Because he did not have any new seizures, treatment with Dilantin was gradually tapered and stopped. For the dry, scaly skin, he was treated with moisturizers. His abdominal pain persisted for six more days, which was managed with Ultram (tramadol hydrochloride) as needed.

The patient was discharged and prescribed a high dose of oral Trandate (30 mg/kg/day), which was gradually reduced over the next two weeks. The family was counseled about the disease and the potential factors that could trigger acute episodes, but no genetic testing was performed due to financial constraints.

Acute intermittent porphyria is rare before puberty, “as various reproductive hormones play [a] dominant role in the precipitation of acute attacks,” the researchers stated. This rare case of acute intermittent porphyria in such a young child, and the coexistence of another unrelated genetic disease, could be due to the consanguinity of the parents, researchers concluded.

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