1/196. Oral-facial-digital syndrome with hypothalamic hamartoma, postaxial ray hypoplasia of the limbs, and vagino-cystic communication: a new variant? We report on a 20-month-old girl with hypothalamic hamartoma, left cerebral atrophy, tongue nodules, oral frenula, micrognathia, hypoplasia of the left ulna, the fibulae, and right tibia, polysyndactyly of the hands and feet, vagino-cystic drainage with hydrometrocolpos, megaloureters, and hydronephrosis, agenesis of urethra, complex partial seizures, and central precocious puberty. The differential diagnosis is discussed. We conclude that the malformation complex in this girl is an oral-facial-digital syndrome, but is different from any of the 11 known subtypes. ( info) |
2/196. hamartoma of the suprasellar cistern in a 5-year-old girl. A 5-year-old girl with precocious puberty secondary to a suprasellar hamartoma is presented. magnetic resonance imaging (MRI) revealed a lesion without attachment to the tuber cinereum or the mamillary bodies. Total resection of the tumour was performed. ( info) |
3/196. Cirrhosis in a child with hypothalamic syndrome and central precocious puberty treated with cyproterone acetate. Before the advent of gonadotropin-releasing-hormone analogues, cyproterone acetate (CPA) had been widely prescribed for the treatment of precocious puberty. Although it is usually well tolerated, liver toxicity has been recognized as a complication of its long-term use. We report the occurrence of cirrhosis in a 10-year-old boy with hypothalamic syndrome and precocious puberty who was treated with CPA for over 50 months. Despite discontinuation of the medication, the liver disease progressed. The patient died of sepsis and multiorgan failure at the age of 14 years. This is the first paediatric report of substantial liver damage and liver toxicity progressing to cirrhosis associated with CPA treatment. CONCLUSION: Prolonged cyproterone acetate treatment may induce cirrhosis. Monitoring of liver function both during treatment and for several months after discontinuation of therapy is recommended. ( info) |
| A 26-year-old man presented with diabetes insipidus, sexual dysfunction and memory impairment. Nuclear magnetic resonance imaging and pathologic examination revealed Langerhans cell histiocytosis of the hypothalamus, which contained no eosinophils. The lesional cells were positive for S-100 protein and CD1a antigen, and negative for CD68 antigen. The possible pathogenesis, absence of eosinophils and prognosis are discussed. ( info) |
5/196. Stereotactic radiofrequency ablation for the treatment of gelastic seizures associated with hypothalamic hamartoma. Case report. The author presents the case of a patient with gelastic seizures associated with a hypothalamic hamartoma, in whom partial resection of the hamartoma followed by temporal lobectomy and orbitofrontal corticectomy failed to reduce the seizures. Subsequent stereotactic radiofrequency ablation of the hamartoma resulted in progressive improvement in the seizure disorder during a 28-month follow-up period. There is support in the literature for the concept that gelastic seizures originate directly from the hamartoma; however, direct surgical approaches to these lesions pose significant risks. It is proposed that the technique of radiofrequency ablation provides a minimally invasive, low-risk approach for the treatment of hypothalamic hamartomas. ( info) |
6/196. Treatment with a gonadotropin-releasing-hormone analog and attainment of full height potential in a male monozygotic twin with gonadotropin-releasing hormone-dependent precocious puberty. We report on a pair of male monozygotic twins, one unaffected and the other affected with gonadotropin-releasing hormone (GnRH)-dependent precocious puberty, and discuss the role of treatment with a GnRH analog in the attainment of full height potential in GnRH-dependent precocious puberty. At 1.6 years of age, the affected twin was studied for tall stature ( 3.8 SD), and was diagnosed as having GnRH-dependent precocious puberty due to a hypothalamic hamartoma of the tuber cinereum. He was treated with oral cyproterone acetate (110-170 mg/m(2) daily) from 1.8 through 5. 0 years of age, with oral cyproterone acetate and intranasal buserelin acetate (700-900 microg/m(2) daily) from 5.0 through 7.5 years, and with intranasal buserelin acetate alone (1100- 1400 microg/m(2) daily) from 7.5 through 12.6 years. He attained a final height of 171.0 cm at 14.9 years of age ( 0.10 SD) and his twin 170. 0 cm at 15.3 years of age (-0.10 SD), with their target height being 174.5 /- 9.0 cm. CONCLUSION: This study indicates that GnRH analog treatment may preserve near full height potential in some patients with GnRH-dependent precocious puberty. ( info) |
| A 4-month-old boy with polydactyly and bifid epiglottis was found to have a large sellar and suprasellar mass. When the diagnosis of pallister-hall syndrome was made, conservative management was elected. When the patient was 2 years old, the tumor had grown proportionally with the patient, and he was developing appropriately. Although rare, this entity is important to recognize not only for clinical diagnosis but also for appropriate management and genetic counseling. ( info) |
| Activation of LH-releasing hormone (LHRH) secretion, essential for the initiation of puberty, is brought about by the interaction of neurotransmitters and astroglia-derived substances. One of these substances, transforming growth factor alpha (TGFalpha), has been implicated as a facilitatory component of the glia-to-neuron signaling process controlling the onset of female puberty in rodents and nonhuman primates. Hypothalamic hamartomas (HH) are tumors frequently associated with precocious puberty in humans. The detection of LHRH-containing neurons in some hamartomas has led to the concept that hamartomas advance puberty because they contain an ectopic LHRH pulse generator. Examination of two HH associated with female sexual precocity revealed that neither tumor had LHRH neurons, but both contained astroglial cells expressing TGFalpha and its receptor. Thus, some HH may induce precocious puberty, not by secreting LHRH, but via the production of trophic factors--such as TGFalpha--able to activate the normal LHRH neuronal network in the patient's hypothalamus. ( info) |
9/196. MR imaging features in hypothalamic hamartoma: a report of three cases and review of literature. Hypothalamic hamartomas are rare tumours of particular interest because of their unusual symptoms. Three cases of hypothalamic hamartomas are reported in children, who presented with precocious puberty and gelastic seizures. ( info) |
10/196. Gamma knife radiosurgery for hypothalamic hamartomas in patients with medically intractable epilepsy and precocious puberty. Report of two cases. hamartoma of the hypothalamus represents a well-known but rare cause of central precocious puberty and gelastic epilepsy. Due to the delicate site in which the tumor is located, surgery is often unsuccessful and associated with considerable risks. In the two cases presented, gamma knife radiosurgery was applied as a safe and noninvasive alternative to obtain seizure control. Two patients, a 13-year-old boy and a 6-year-old girl, presented with medically intractable gelastic epilepsy and increasing episodes of secondary generalized seizures. Abnormal behavior and precocious puberty were also evident. Magnetic resonance (MR) imaging revealed hypothalamic hamartomas measuring 13 and 11 mm, respectively. After general anesthesia had been induced in the patients, radiosurgical treatment was performed with margin doses of 12 Gy to 90% and 60% of isodose areas, covering volumes of 700 and 500 mm3, respectively. After follow-up periods of 54 months in the boy and 36 months in the girl, progressive decrease in both seizure frequency and intensity was noted (Engel outcome scores IIa and IIIa, respectively). Both patients are currently able to attend public school. Follow-up MR imaging has not revealed significant changes in the sizes of the lesions. Gamma knife radiosurgery can be an effective and safe treatment modality for achieving good seizure control in patients with hypothalamic hamartomas. ( info) |