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To evaluate morbidity and functional results of surgical treatment in patients with Graves' disease.A retrospective study was performed in 108 patients operated on during 1993-2003. Main indications for surgery were failure of treatment with antithyroid drugs (80.6%), large goiter (46.3%) and/or severe ophthalmopathy (23.1%). Surgical procedures were extensive subtotal thyroidectomy (EST; n = 33; uni- or bilateral remnant of2 g) or total thyroidectomy (TT; n=75). Functional results were established in 89 patients (27 EST patients and 62 TT patients) after a mean follow-up of 5.9 years.Operative mortality was zero. There were 4 (3.7%) transient unilateral recurrent laryngeal nerve (RLN) palsies and no cases of permanent RLN palsy. Temporary hypocalcemia occurred in 15 patients (13.9%) and permanent hypoparathyroidism resulted in two (1.9%). Four patients (3.7%) developed a postoperative hematoma that required reoperation. There was no significant difference in the rate of complications between EST and TT, although temporary hypocalcemia was more common following TT than EST (17.3% vs. 6.1%) and permanent hypoparathyroidism affected only TT patients. None of the patients developed recurrent hyperthyroidism; all patients are maintained on levothyroxine.Surgery is an effective therapy for selected cases of Graves' disease. When performed by experienced surgeons, it can be carried out with no mortality and minimal morbidity. EST (with uni- or bilateral remnant of2 g) and TT are both effective in order to achieve a definitive cure of hyperthyroidism.

We report the outcome of liver transplantation (LT) in the only surviving patient with lathosterolosis, a defect of cholesterol biosynthesis characterized by high lathosterol levels associated with progressive cholestasis, multiple congenital anomalies and mental retardation. From her diagnosis at age 2 she had shown autistic behavior, was unable to walk unaided and her sight was impaired by cataracts. By age 7 she developed end-stage liver disease. After a soul-searching discussion within the transplantation team, she was treated with LT as this represented her only lifesaving option. At 1-year follow-up, her lathosterol levels had returned to normal (0.61 mg/dL from 13.04 ± 2.65) and her nutrition improved. She began exploring her environment and walking by holding onto an adult's hand and then independently. Her brain magnetic resonance imaging (MRI) had shown a normal picture at age 1, whereas a volume reduction of white matter with ex vacuo ventricular dilatation and defective myelinization were observed before transplant. At 5-year follow-up, a complete biochemical recovery, an arrest of mental deterioration and a stable MRI picture were achieved, with a return to her every day life albeit with limitations. Timely liver transplant in defects of cholesterol biosynthesis might arrest the progression of neurological damage.