Short stature as a presenting feature of pheochromocytoma

Abstract

Pheochromocytoma, a catecholamine-secreting tumor arising from the chromaffi n cells of the sympathetic nervous system, is uncommon in children and accounts for <1% of pediatric hypertension. 1,2 Besides severe hypertension, patients suffer from headaches, diaphoresis, palpitations, and exhaustion due to catecholamine excess. As a result of hypermetabolism, poor weight gain may also be prominent despite good appetite. However, no association between growth failure and pheochromocytoma has been reported in the literature. Here we report an unusual case of childhood-onset pheochromocytoma complicated by short stature as a presenting feature. Case reportA 13-year-old Japanese boy was admitted to Matsue Red Cross Hospital for severe headache and palpitation. He was born uneventfully at term via cephalic presentation with a length of 50.3 cm and a weight of 3280 g. There was no family history of short stature (his father and mother were 174 cm and 156 cm tall, respectively), hypertension, endocrine disease, or phacomatosis. The boy was well until 10 years of age when his short stature became apparent ( Fig. 1 ). From age 11 on, he began to suffer from episodic headaches, nausea and palpitations. Diaphoresis and polydipsia had also developed.On admission the patient was fl ushed, diaphoretic and appeared exhausted. Remarkable short stature (133.8 ± 3.0 cm) was found with normal proportions (bodyweight, 29.5 ± 1.9 kg; body mass index [BMI], 16.5 kg/m 2 ) and prepubertal external genitalia. Marked hypertension (fl uctuating, 170 -240/110 -130 mmHg) was noted on his initial examination, while his pulse rate was regular at 90 beats per min. Neither a goiter nor an abdominal tumor was palpable. Ophthalmoscopy indicated mild retinal hemorrhage.Routine laboratory fi ndings were normal, including complete blood counts, serum chemistries, and urinalysis (Table 1). The plasma and urinary levels of norepinephrine were signifi cantly elevated at 22 500 pg/mL (normal range, 90 -420 pg/mL) and 2900 g/24 h (normal range, 19 -151 g/24 h), respectively, while plasma and urinary epinephrine or dopamine levels were all normal. The spot urinary vanillylmandelic acid level was also elevated. No evidence of adrenocortical hyperfunction, thyrotoxicosis or multiple endocrine neoplasia was found. Abdominal ultrasonography, computed tomography (CT; Fig. 2 ) and magnetic resonance imaging (MRI) demonstrated a well-defi ned, 5.0 × 4.5 cm solid mass in the right infrarenal area: both adrenal glands appeared normal. Scanning with radiolabeled m -iodebenzylguanidine, just once after 24 h of the infusion, failed to show uptake by the tumor. Both cranial and chest CT also did not produce any other tumor images.Under a clinical diagnosis of solitary, extra-adrenal, norepinephrine-producing pheochromocytoma, 50 g tumor tissue was surgically removed. The pathological fi nding of the tumor sections were consistent with pheochromocytoma on HE staining, with partial immunoreactivity of vasoactive intestinal peptide but not of somatostatin . 3 Electron micro...