Seizure due to somatostatin analog discontinuation in a case diagnosed as congenital hyperinsulinism novel mutation

The most common reason for refractory hypoglycemia in newborns is congenital hyperinsulinism. We report a girl with congenital hyperinsulinism due to novel homozygous mutation (c.2041-25 G>A; aberrant splicing mutation) in the ABCC8 gene encoding SUR1 and during somatostatin analog (octreotide) discontinuation developed by nonhypoglycemic seizures. The newborn (birth weight of 3,750 g) was referred to our clinic because of hypoglycemic seizures at 4 h postnatal. On admission, blood glucose was 24 mg/dL and intravenous glucose infusion was started. The patient's insulin level was 27 mIU/mL during the hypoglycemic period. Phenobarbital (5 mg/ kg/day) was added because of short-acting generalized clonic seizures. Although the patient received high doses of diazoxide, esidrex, and octreotide approximately for 2 months, hypoglycemic episodes continued. Then the patient had near-total pancreatectomy, and pathology confirmed a diffuse form of congenital hyperinsulinism. There was homozygous mutation in the ABCC8 gene encoding SUR1, which confirmed the diagnosis of autosomal recessive congenital hyperinsulinism. During octreotide discontinuation, the patient developed non-hypoglycemic seizures, which were controlled by restarting the previous doses. In the light of in vitro and in vivo studies on antiepileptic effects of somatostatin, we believe that seizures in our case have developed secondary octreotide discontinuity.     

Electroencephalogram variations in pediatric migraines and tension-type headaches

This study evaluates specific electroencephalogram abnormalities in pediatric migraine and tension-type headaches, and demonstrates the clinical value of these abnormalities. We studied 50 migraine patients and 50 tension-type headache patients. Their mean age ± SD was 10.62 ± 3.21 (range, 5-16) years in the migraine group, and 13.00 ± 2.37 (7-16) years in the tension-type headache group. Diagnoses were rendered according to the International Classification of Headache Disorders, 2nd Edition, First Revision, of the International Headache Society. All patients underwent two waking-state electroencephalograms, one during a headache, and the other when headache-free. Thirty-six percent (18/50) of migraine patients and 12% (6/50) of tension-type headache patients revealed specific electroencephalogram abnormalities in headache attack electroencephalograms (P < 0.05). In headache-free period electroencephalograms, 16% (8/50) of the migraine group and 2% (1/50) of the tension-type headache group revealed abnormalities (P < 0.05). Our results indicate that electroencephalogram abnormalities are particularly prevalent in migraines, especially during headache attacks. This study is the first, to the best of our knowledge, on electroencephalographic evaluation of pediatric migraine and tension-type headache patients during both headache attacks and headache-free periods.     

Severe muscle-eye-brain disease is associated with a homozygous mutation in the POMGnT1 gene.

Muscle-eye-brain (MEB) disease is an autosomal recessive disorder characterized by a broad clinical spectrum including congenital muscular dystrophy, ocular abnormalities, and brain malformation (type-II lissencephaly). Herein, we report on two Turkish siblings with a homozygous mutation in the POMGnT1 gene. A 6-year-old sibling has a severe form of MEB disease, which in some aspects is more suitable with the diagnosis of Walker-Warburg syndrome. However, the same mutation resulted in a less severe form of MEB in the older sibling, who is 14 years old. These two cases suggest that POMGnT1 mutations may cause MEB disease with different phenotypes even in the same family.     

The endometrium in asymptomatic breast cancer patients on tamoxifen: value of transvaginal ultrasonography with saline infusion and Doppler flow

OBJECTIVE: To define by transvaginal ultrasonography an optimal cutoff for endometrial thickness measurements to be used in screening for endometrial pathologies in asymptomatic breast cancer patients on tamoxifen, and to evaluate the incorporation of saline infusion sonohysterography and Doppler studies into the diagnostic scheme. METHODS: Sixty tamoxifen-treated women examined by transvaginal ultrasonography with saline infusion were included in this retrospective study. Variables of interest were endometrial thickness and texture, and the presence of intracavitary fluid at ultrasonography, total endometrial thickness, defined as the sum of the two endometrial layers and the presence of polypoid masses at sonohysterography, and uterine artery flow indices at Doppler ultrasonography. The dilatation and curettage performed after the sonographic scan detected pathological endometrial changes in nine cases, including six endometrial polyps, two endometrial hyperplasias, and one endometrial cancer. All parameters evaluated were compared between patients with benign and pathological endometria. Continuous variables that differed significantly between the groups were investigated further by receiver operating characteristics curve analyses and the diagnostic value of combinations of various parameters by binary logistic regression. RESULTS: The endometrial thickness in patients with proven endometrial pathologies was significantly greater compared with women with benign endometria, both by transvaginal ultrasonography (12.7 +/- 5.5 vs. 7.0 +/- 4.5 mm; P = 0.003) and by sonohysterography (6.3 +/- 2.8 vs. 4.1 +/- 1.7 mm; P = 0.036). While saline infusion sonohysterography also revealed a significantly higher frequency of polypoid masses in the former group (67% vs. 2%; P < 0.001), no other significant differences were defined between the groups in regard to any other sonographic or Doppler parameter evaluated. For the diagnosis of any endometrial pathology, the optimal cutoffs of endometrial thickness at ultrasonography and total endometrial thickness at sonohysterography were 9.5 and 5.5 mm, with sensitivities of 89% and 78% and specificities of 78% and 84%, respectively. A logistic regression model including polypoid lesions (B = -4.935; P < 0.001) and total endometrial thickness at sonohysterography (B = 0.432; P = 0.027) as the only two independent variables had a sensitivity of 100% and specificity of 84%. CONCLUSION: Saline infusion sonohysterography does, yet Doppler ultrasonography does not, add to the value of endometrial thickness measurements by transvaginal ultrasonography in the screen for endometrial pathologies in asymptomatic breast cancer patients on tamoxifen.     

Acute Disseminated Encephalomyelitis Associated With Acute Toxoplasma gondii Infection

Acute disseminated encephalomyelitis is an acute demyelinating disorder of the central nervous system, which principally affects the brain and spinal cord. It usually follows a benign infection or vaccination in children. Although a number of infectious agents have been implicated in acute disseminated encephalomyelitis, Toxoplasma gondii infection has not been described previously in children. Acquired T. gondii infection presents with lymphadenopathy and fever and usually spontaneously resolves in immunocompetent patients. We describe a previously healthy 10-year-old boy with acute disseminated encephalomyelitis associated with acute acquired Toxoplasma gondii infection, the symptoms of which initially began with nuchal stiffness, difficulty in walking, and urinary and stool incontinence; he later had development of motor and sensory impairment in both lower extremities and classical magnetic resonance imaging lesions suggestive of the disease. The patient recovered completely after the specific therapy for acquired T. gondii infection and pulse prednisolone. Although acute acquired Toxoplasma gondii infection has not been reported previously in association with acute disseminated encephalomyelitis, clinicians should keep in mind this uncommon cause of a common disease when evaluating a patient with acute disseminated encephalomyelitis.