Three siblings with self-limited familial infantile epilepsy with PRRT2 mutation: A case series.

We report three sisters with self-limited familial infantile epilepsy, caused by a mutation in proline-rich transmembrane protein2. Self-limited familial infantile epilepsy has been established as a distinct epileptic syndrome characterized by focal seizures in clusters of infantile-onset. The seizure types of our cases were focal with or without secondary generalization. The seizures manifested at 3-5 months of age, and each lasted 1-2 min. All three sisters fulfilled the criteria for self-limited familial infantile epilepsy, except in one case who showed interictal spikes in the right central area. The seizures were controlled with carbamazepine. When carbamazepine treatment was started, one case developed a rash, and her treatment was switched to valproic acid. However, the seizures persisted in this case such that carbamazepine was restarted. The rash did not recur. Electroencephalography showed spikes in only one case on interictal electroencephalography. All three sisters were developmentally normal, and no dyskinesia was observed during follow-up. All three sisters and their father, but not their mother, had the following pathogenic variant in proline-rich transmembrane protein2: NM_001256442.2(PRRT2): c.649dup[p.(Arg217Profs*8)]. This mutation has been identified in the majority of families with self-limited familial infantile epilepsy, paroxysmal kinesigenic dyskinesia, and/or infantile convulsion and choreoathetosis. Their father had no history of either self-limited familial infantile epilepsy or paroxysmal kinesigenic dyskinesia. The lack of a clear genotype-phenotype correlation was demonstrated in our cases with this proline-rich transmembrane protein2 mutation.

Arginase deficiency with parotid gland swelling and hyperamylasemia: A case report.

Arginase deficiency is a progressive neurological disorder characterized by episodic hyperammonemia crises. Our patient had been diagnosed with cerebral palsy (spastic paraplegia) in childhood and received rehabilitation. She had suffered parotid swelling since the age of 5 years, prior to liver dysfunction becoming apparent, and then developed hyperamylasemia at 8 years of age. At age 25 years, she presented with hyperammonemia and elevations of aspartate aminotransferase and alanine aminotransferase. At age 27 years, she was diagnosed with arginase deficiency due to hyperargininemia and absent arginase activity in erythrocytes. Liver cirrhosis was also present. She was hospitalized several times for management of episodic hyperammonemia due to recurrent viral infections, an unbalanced diet, and poor compliance with medications.

A case of Turner's syndrome with Graves' disease and primary hyperparathyroidism.

We report a 21-year-old woman with Turner's syndrome, Graves' disease and primary hyperparathyroidism. At 12 years of age, she was of short stature, and was diagnosed with Turner's syndrome and treated with growth hormone. At the age of 17 years, she was diagnosed with Graves' disease. On treatment with methimazole, her laboratory findings normalized. At the age of 20 years, her serum calcium and intact parathyroid hormone levels were high. The upper left parathyroid gland showed swelling and was resected, and adenoma was diagnosed pathologically. Then, primary hyperparathyroidism induced by the adenoma was diagnosed. After the parathyroidectomy, the patient's serum calcium and intact parathyroid hormone levels normalized. Is likely that Turner's syndrome and Graves' disease were not associated with primary hyperparathyroidism. Multiple endocrine neoplasia type 1 was unlikely considering the clinical, laboratory, ultrasonographic, and scintigraphic findings.

[Clinical and electroencephalogram study of 5 children with hypothalamic hamartoma].

We retrospectively studied 5 children with hypothalamic hamartoma (HH) to elucidate the clinical, neuroimaging and electroencephalogram (EEG) characteristics of this disorder. In all cases, high resolution MRI scans demonstrated an intrahypothalamic mass protruding into the 3rd ventricle. An initial symptom was epileptic attack in 4 cases and precocious puberty in the remaining one. Gelastic seizures developed in 4 of 5 patients at ranging from 2 days to 11 years of age. The ictal EEGs during the gelastic seizures showed diffuse attenuation of background activity, followed by rhythmic slow discharges either diffusely or in the central area. Gamma-knife radiosurgery was performed on 2 cases whose seizures were resistant to available antiepileptic drugs. One of the 2 patients was responded significantly to this treatment, showing the disappearance of combined attacks and a marked reduction of the generalized spike-waves discharges. A more aggressive therapy, including gamma-knife radiosurgery and surgical treatment, should be considered for patients whose seizures are resistant to the medical treatment and causing deterioration of intelligence and behavioral problem.

Two cases of precocious puberty associated with hypothalamic hamartoma.

Hypothalamic hamartoma (HH) is a congenital malformation diagnosed based on magnetic resonance imaging (MRI) and histological findings; it is often associated with central precocious puberty (CPP), gelastic seizures, abnormal behavior and mental retardation. In the present paper, we report our retrospective hypothesis that there is a relationship between symptoms and therapy, as well as the treatment for HH, and describe two cases of HH associated with CPP. Both cases had sessile masses located in the interpeduncular cistern, with extension to the hypothalamus on MRI (1.2 × 1.5 cm and 2.0 × 2.5 cm, respectively). The first case had intractable seizures, while the second had no seizures with paroxysmal discharge. In both patients, the hamartomas were partially removed, by γ-knife and surgical operation in the first case and surgically in the second, and a gonadotropin releasing hormone (GnRH) analogue was prescribed. One case showed improvement of both intelligence quotient (IQ) score and seizures, and the other showed improvements in IQ and abnormal behavior. It was difficult to determine any topology/symptom relationships. Surgery and GnRH analogue treatment can alleviate seizures, abnormal behavior and mental retardation associated with HH.