Background. CD59 is the principal cell inhibitor of complement membrane attack on cells. Stroke, peripheral neuropathy, and recurrent central nervous system attacks have been reported in patients with inherited CD59 deficiency. In this paper, we report a patient with CD59 deficiency associated with two attacks of demyelinating peripheral neuropathy and the third attack as an isolated optic neuritis. Case. An 8-month-old girl whose sibling died at 12th month of age with recurrent weakness episodes responsive to intravenous immune globulin treatment, presented with weakness in legs and poor sucking. Weakness episodes with neurogenic electromyography suggested CD59 deficiency. Immunophenotypic analysis with flow cytometry showed CD59 deficiency. Sanger sequencing of CD59 gene revealed a homozygous c146delA (p.Asp49Valfs*32) mutation. First two attacks were treated with intravenous immunoglobulin therapy without any sequalae. Third attack was an isolated optic neuritis which could not be explained by any other entity. The patient had no response to intravenous immunoglobulin but benefited from pulse steroid therapy. Eculizumab was started every two weeks in order to prevent possible advanced attacks and to reduce their severity. Conclusion. Although it is a rarely reported disease, better recognition of CD59 deficiency by pediatric neurologists is necessary because it is curable. In addition to different presentations reported, optic neuritis may also be a manifestation of CD59 deficiency.

Background. Various studies, mainly conducted in adults, have examined the hormonal axis in primary empty sella (PES), and reported various forms of pituitary deficiencies. We report our experience with PES in pediatric patients in terms of pituitary function, associated impairments, and responses to treatment. Methods. We reviewed 10,560 cranial and 325 pituitary magnetic resonance imagings (MRIs) performed at our university hospital between January 2010 and December 2020 and identified patients with PES. Patients with additional abnormal MRI findings, a history of cranial surgery or radiotherapy, autoimmunity, long-term use of chemotherapeutic or immunosuppressive agents or incomplete diagnostic evaluation were excluded. Clinical, radiological and laboratory evaluations were recorded. Results. The study included 17 patients [9 girls, 8 boys; median age 12.4 years (7.25, 4.3 - 17)]. The median size of the pituitary was 2 mm (0.7, 1.2 - 3). Based on age-dependent pituitary height measurements, fifteen (88%) patients had pituitary gland hypoplasia. Five patients presented with short stature, two had both pubertal delay and short stature, and one had pubertal delay. Nine patients presented with neurological symptoms such as headaches, tinnitus, tics, and dizziness. Five short patients had growth hormone deficiency. None of the patients had hyper- or hypoprolactinemia, adrenal insufficiency, hypothyroidism, or diabetes insipidus. There was statistically no significant association between the size of the pituitary gland and the severity of hypopituitarism (p = 0.42). Conclusions. The high incidence of pituitary dysfunctions ascertain that this entity should not be considered a normal variant but, should instead be carefully evaluated with appropriate basal and dynamic hormonal testing.

OBJECTIVE: Fetal cerebral ventriculomegaly is defined as enlarged cerebral lateral ventricles. The etiology of fetal cerebral ventriculomegaly is multifactorial. Aneuploidy in ventriculomegaly is detected especially in moderate and severe ventriculomegaly accompanied by structural anomalies. This study aims to evaluate patients with fetal cerebral ventriculomegaly for associated structural and genetic abnormalities and their obstetric and neonatal outcomes. STUDY DESIGN: This retrospective cohort study was conducted at Dokuz Eylul University Faculty of Medicine, Obstetrics and Gynecology Department between January 2009 and December 2019. Eighty-seven cases were included in the study and were evaluated for associated structural abnormalities. The results of genetic diagnostic tests were evaluated retrospectively. Postpartum information of the cases was obtained from the hospital records and neurodevelopmental development of the newborns was recorded. RESULTS: Patients were classified as mild, moderate, and severe ventriculomegaly. Concomitant structural abnormalities were observed in 64% of the patients. Corpus callosum agenesis was the most common abnormality. The incidence of accompanying anomalies in severe ventriculomegaly was found to be significantly higher. Invasive prenatal tests were performed on 27 patients and one of them had a chromosomal abnormality. No significant correlation was observed between the incidence of postpartum neurodevelopmental disorders and the degrees of ventriculomegaly. CONCLUSIONS: Fetal cerebral ventriculomegaly is a dynamic process. The etiology is multifactorial and abnormalities can be detected during follow-up. All patients should be evaluated carefully for associated abnormalities. The cases should also be evaluated for neurodevelopmental outcomes after birth. All diagnosis, follow-up, and treatment options should be handled with a multidisciplinary approach.

Objectives Large cell calcifying Sertoli cell tumours (LCCSCTs) are one of the infrequent causes of prepubertal gynaecomastia. Most of these tumours are in the content of Peutz–Jeghers syndrome (PJS) or other familial syndromes (Carney complex). Case presentation Here, we report a long-term follow-up of an 8.5-year-old prepubertal boy with a diagnosis of PJS, who presented with bilateral gynaecomastia, advanced bone age and accelerated growth velocity, and were found to have bilateral multifocal testicular microcalcifications. As the findings were compatible with LCCSCT, anastrozole was initiated. Gynaecomastia completely regressed and growth velocity and pubertal development were appropriate for age during follow-up. Testicular lesions slightly increased in size. After four years of medication, anastrozole was discontinued but was restarted due to the recurrence of gynaecomastia after six months. Conclusions Testicular tumour should be investigated in a patient with PJS who presents with prepubertal gynaecomastia. When findings are consistent with LCCSCT, aromatase inhibitors may be preferred in the treatment.