Expanding the clinical and genetic spectrum of FDXR deficiency by functional validation of variants of uncertain significance.

Ferrodoxin reductase (FDXR) deficiency is a mitochondrial disease described in recent years primarily in association with optic atrophy, acoustic neuropathy, and developmental delays. Here, we identified seven unpublished patients with FDXR deficiency belonging to six independent families. These patients show a broad clinical spectrum ranging from Leigh syndrome with early demise and severe infantile-onset encephalopathy, to milder movement disorders.

Evolution and novel radiological changes of neurodegeneration associated with mutations in C19orf12.

Introduction: Neurodegeneration with brain iron accumulation (NBIA) comprises a heterogeneous group of disorders with accumulation of iron in the brain, mostly basal ganglia. NBIA subtype mitochondrial membrane protein-associated neurodegeneration (MPAN) is caused by recently discovered mutations in C19orf12, which encodes a protein localized in the mitochondrial membrane.

Methods: The present and past radiological features of 14 MPAN patients were analyzed.

Severe central and peripheral paraneoplastic demyelination associated with tumours of the ovaries.

Purpose: The aim of the study is to present MRI examinations of the brain and spinal cord, performed in girls with acute severe neurological presentation of paraneoplastic syndrome associated with ovarian teratomas. Paraneoplastic neurological syndrome (PNS) is a rare disorder caused by remote effects of malignancy in different organs. The pathogenesis of PNS concerns the autoimmune system and specific antibodies.

Contrast enhancement pattern predicts poor survival for patients with non-WNT/SHH medulloblastoma tumours.

Recent studies revealed the biological heterogeneity of medulloblastoma, with the existence of at least four groups which are associated with several clinical and morphological features. We investigated for further correlations between molecular types, location of tumours, their contrast enhancement pattern and survival of patients. Altogether 76 tumours were analyzed and molecular subtypes were identified by immunohistochemistry using representative antibodies, detection of chromosome 6 monosomy and CTNNB1 mutation.

Giant cerebellar cavernous malformation in 4-month-old boy. Case report and review of the literature.

Cavernous malformations (CMs) are rare vascular lesions that affect 0.4-0.9% of the population.

Rhombencephalosynapsis - isolated anomaly or complex malformation?

Background: Rhombencephalosynapsis (RES) is a rare malformation of the posterior cranial fossa, characterized by fusion of the cerebellar hemispheres, medial cerebellar peduncles and dentate nuclei. Over the period of 7 years 8 cases of this anomaly have been diagnosed in two pediatric centers in Warsaw including one on the prenatal magnetic resonance imaging (MRI).

Material/methods: Material consists of involves one fetus examined at the gestational age of 27 and 33 weeks and 7 children (5 girls and 2 boys) aged 8 months - 16 years.

Congenital brain tumors in a series of 56 patients.

Introduction: Central nervous system tumors diagnosed before the end of the first year of life differ from those found in older children and in adults. The differences include mode of clinical presentation, anatomical distribution, histopathological diagnoses, response to therapy, and outcome.

Materials And Methods: The material consists of 56 children (23 girls and 33 boys), aged at recognition 32 Hbd-12 months.

Congenital intramedullary spinal cord tumours: a report of two cases.

We present two different cases of congenital intramedullary tumours, one of a patient in whom treatment was started without pathological confirmation of a malignant tumour and the other of a primitive neuroectodermal tumour. Magnetic resonance imaging is the most useful tool in the diagnosis of malignant intramedullary tumours and differentiation from other types of spinal cord lesions.

Arterial hypertension with brachydactyly in a 15-year-old boy.

Autosomal dominant brachydactyly with hypertension is the only form of monogenic hypertension which is not sodium dependent. The disease is characterized by brachydactyly type E, short stature, arterial hypertension and aberrant loop of posterior inferior cerebellar artery (PICA) causing neurovascular conflict. So far the syndrome was described in one family in Turkey and two in Canada.