Joubert syndrome and related disorders: a rare cause of intrahepatic portal hypertension in childhood.

OBJECTIVE: Joubert syndrome (JS) and related disorders (JSRD) (OMIM #213300) are a group of developmental delay/multiple congenital anomalies syndromes in which the pathognomonic "the molar tooth sign" (MTS) is present, is caused by the defects in the structure or function of the primary cilium. Liver disease is observed in minority of JSRD, usually manifesting as congenital hepatic fibrosis (CHF). In this paper we report a child with JSRD in whom signs of portal hypertension and chronic liver disease appeared and in the follow-up nephrologic features were added to her clinical signs. CONCLUSIONS: The physicians must be aware of this disorder in the differential diagnosis of portal hypertension of unknown origin.

The role of cervical thymectomy in surgical treatment of secondary hyperparathyroidism.

OBJECTIVE: Parathyroid glands are frequently found in the thymus. We aimed to investigate the frequency of inferior parathyroid glands, and supernumerary glands located in the thymus in our series of renal hyperparathyroidism. METHODS: From January 2004 to September 2008, subtotal parathyroidectomy and cervical thymectomy was performed in 25 consecutive patients. Of these 25 patients, reoperation was carried out for one patient with persistent hyperparathyroidism and one patient with recurrent hyperparathyroidism. Operative details and pathology results were prospectively collected and reviewed. RESULTS: In 13 of 25 (52%) patients, at least one parathyroid gland was found in the thymus. In 7 (28 %) patients, at least one inferior gland was located in the thymus. In 7 patients (28%), supernumerary glands were found in the thymic tongue. One patient had both inferior and supernumerary glands in the thymus. In 8 patients (32%), 10 supernumerary glands were detected. The frequency of rudimentary and proper supernumerary glands were 5 (50%) and 5 (50%), respectively. Seven (3 proper and 4 rudimentary) of 10 supernumerary glands (70%) glands were located in the thymus. CONCLUSIONS: Thymectomy contributed to the treatment of 52% of patients. We conclude that to minimize the risk for missing parathyroid glands, thymectomy should be considered as a routine part of total parathyroidectomy with autotransplantation and subtotal parathyroidectomy in addition to careful cervical exploration for secondary hyperparathyroidism (Tab. 1, Ref. 27).