Partial empty sella syndrome, GH deficiency and transient central adrenal insufficiency in a patient with NF1.

PURPOSE: To describe the case of a 9-year-old male patient with neurofibromatosis type 1 (NF1), partial empty sella (PES), transient central adrenal insufficiency (CAI) and growth hormone (GH) deficiency (GHD) treated with recombinant GH (rGH). METHODS: The diagnosis of GHD was established upon peak GH response <10 ng/mL following glucagon and clonidine stimulation tests. CAI was diagnosed when peak cortisol response was <18 µg/dL following 1 µg Synacthen test (ST) with normal ACTH levels. RESULTS: The diagnosis of NF1 was made at the age of 1.5 year. The patient first attended our Department at the age of 4.5 years. He presented with short stature (height: 95 cm < 3rd percentile), macrocephaly, frontal bossing, café-au-lait spots and bilateral proptosis. His growth rate (GR) initially was 5.3 cm/year. Brain/pituitary MRI showed T2-hyperintensities typical for NF1 and PES with reduced pituitary gland height (3 mm). The pituitary function tests revealed GHD. During follow-up his imaging findings remained unchanged, while his GR decelerated. He was started on rGH at the age of 8.5 years. Within the following year he grew 8.7 cm in height and could preserve a normal GR thereafter. At the age of 10.3 years, he was diagnosed with CAI (maximum cortisol response post-1 µg ST: 13.1 µg/dL). Ηe received hydrocortisone for 1 year. A repeat 1 µg ST off hydrocortisone showed normal cortisol response. During follow-up, brain MRI findings remained stable, while his pituitary demonstrated normal size and signal intensity. CONCLUSION: Empty sella and hypopituitarism may occur in the context of NF1. Short stature may be associated with GHD in the absence of intrasellar masses in affected individuals. Lifelong endocrine follow-up is recommended for all NF1 patients.

Congenital cervical teratomas.

Congenital cervical teratomas are rare, representing 3% of teratomas in childhood. Although mostly benign, they are associated with a high mortality rate due to respiratory distress and require immediate surgical excision. The diagnosis is usually suggested on the physical examination. The imaging investigation is essential for the proper diagnosis and preoperative planning. We present the imaging characteristics of cervical teratomas identified in five neonates over a 10-year-period. The masses were surgically resected. Histopathology revealed the presence of congenital teratomas (three immature, two mature). Two neonates died soon after surgery, while the remaining were discharged from the hospital without symptoms.

Long-term findings on brain magnetic resonance imaging in acute encephalopathy with bilateral striatal necrosis associated with measles.

The long-term findings on brain magnetic resonance imaging (MRI) in a 7 10/12-year-old boy with a history of acute encephalopathy with bilateral striatal necrosis following measles at the age of 22 months are described. At the early stage of illness, brain MRI studies revealed bilateral, symmetric basal ganglia lesions, predominant on the globi pallidi, appearing as hyperintense signals on T1- and T2-weighted images. Six years later, follow-up brain MRI studies showed that the bilateral, symmetric lesions on the globi pallidi persisted with low signal on T1- and high signal on T2 weighted images. At present, the patient has some persistent neurologic signs. These findings suggest that both clinical and neuroradiologic findings may persist in children with acute encephalopathy with bilateral striatal necrosis following measles.