Pineal Parenchymal Tumors of Intermediate Differentiation: A Case Report and Literature Review.

Pineal parenchymal tumors of intermediate differentiation (PPTIDs) account for a significant proportion of pineal tumors and are classified as grade II/III according to the WHO classification. The management of PPTIDs remains controversial because of limited reported cases and the absence of standardized treatment guidelines. We present a case of an eight-year-old male child who presented with vomiting and a sudden squint of the eyes.

Metastatic 4S neuroblastoma with excellent outcome in Saudi cancer center.

Objectives: To retrospectively review a small series of infant neuroblastoma (NBL) in a single Saudi medical institution over 10 years, including their presentation, management, and outcomes.

Methods: Fifty-three subjects aged 0 to 14 years with previously untreated NBL who were diagnosed and treated at Princess Nora Oncology Center, King Abdulaziz Medical City (KAMC), Jeddah, Saudi Arabia, between 2010 and 2019. Six infants (11.

T cell ALL in a child with Ataxia telangiectasia; diagnosis and management challenges.

Ataxia telangiectasia (A-T) is a rare childhood autosomal recessive neurodegenerative chromosomalin stability disorder. It is characterized by high risk of hematological malignancies with T-cell phenotype being the most common, which can present first before the diagnosis of A-T made. The chromosomalin stability in A-T increases the toxicity to radio-chemotherapeutic agents, creating the treatment modification challenges and the deviation from the optimal management protocols.

Duodenal Diverticulosis as an Unusual Cause of Severe Abdominal Pain.

Duodenal diverticulosis (DD) is a rare disease in children, and its etiology is unknown. Here, we report a 13-year-old boy with severe abdominal pain. A diagnosis of DD was made based on clinical and image findings.

Synovial sarcoma of the spine: A case report and review of the literature.

Background: Synovial sarcoma (SS) of the spine is a rare malignant soft-tissue tumor, and there are few reported cases. The aim of this paper is to report a rare case of spinal SS involving the paraspinal muscles, and to review all such cases reported in the literature.

Case Description: In this paper, we report a rare case of spinal SS involving the paraspinal muscles in a 12-year-old girl.

Bi-allelic pathogenic variants in NDUFC2 cause early-onset Leigh syndrome and stalled biogenesis of complex I.

Leigh syndrome is a progressive neurodegenerative disorder, most commonly observed in paediatric mitochondrial disease, and is often associated with pathogenic variants in complex I structural subunits or assembly factors resulting in isolated respiratory chain complex I deficiency. Clinical heterogeneity has been reported, but key diagnostic findings are developmental regression, elevated lactate and characteristic neuroimaging abnormalities. Here, we describe three affected children from two unrelated families who presented with Leigh syndrome due to homozygous variants (c.

Clinical and Neuroimaging Spectrum of Peroxisomal Disorders.

Peroxisomes play vital roles in a broad spectrum of cellular metabolic pathways. Defects in genes encoding peroxisomal proteins can result in a wide array of disorders, depending upon the metabolic pathways affected. These disorders can be broadly classified into 2 main groups; peroxisome biogenesis disorders (PBDs) and single peroxisomal enzyme deficiencies.

Atypical Teratoid/Rhabdoid Tumor of the Spinal Cord in a Child: Case Report and Comprehensive Review of the Literature.

Introduction: Atypical teratoid/rhabdoid tumor (AT/RT) of the central nervous system is characterized by SMARCB1/INI deletion or mutation in the long arm of chromosome 22 11(22q11.2), also resulting in loss of nuclear expression of INI1 protein immunohistochemically. AT/RT tumors usually occur in children below 3 years.

Challenges in the management of childhood low-grade glioma in a developing country.

Background: Treatment modality impacts outcome of childhood low-grade glioma (LGG). Optimizing management in developing countries can be challenging. This study evaluates the clinical characteristics, treatment, and factors influencing outcome of childhood LGG in Saudi Arabia.

Desmoplastic infantile astrocytoma and ganglioglioma: case report and review of the literature.

Desmoplastic infantile astrocytoma (DIA) is a rare, supratentorial, dural-based, large cystic tumor that usually arises in the first 24 months of life. However, non-infantile cases were also reported in the literature. Desmoplastic infantile astrocytoma and desmoplastic infantile ganglioglioma (DIG) are both classified as grade I astrocytoma by the World Health Organization (WHO).

Well-differentiated and anaplastic astroblastoma in the same patient: a case report and review of the literature.

Astroblastoma is a rare brain tumor occurring in children and adults, rarely in the elderly. It constitutes up to 3% of all brain tumors. We report a case of a 14-year-old girl who presented with recurrent seizures and minimal right hemiparesis.

Comparison of respiratory-triggered 3-D fast spin-echo and single-shot fast spin-echo radial slab MR cholangiopancreatography images in children.

Background: The two most commonly performed magnetic resonance cholangiopancreatography (MRCP) sequences, 3-D fast spin-echo (3-D FSE) and single-shot fast spin-echo radial slabs (radial slabs), have not been compared in children.

Objective: The purpose of this study was to compare 3-D FSE and radial slabs MRCP sequences on a 3-T scanner to determine their ability to show various segments of pancreaticobiliary tree and presence of artifacts in children.

Materials And Methods: We reviewed 79 consecutive MRCPs performed in 74 children on a 3-T scanner.

Widespread cortical thinning in children with frontal lobe epilepsy.

Purpose: Spread of seizure activity outside the frontal lobe due to cortico-cortical connections can result in alteration in the cortex beyond the frontal lobe in children with intractable frontal lobe epilepsy (FLE). The aim of this study was to identify regions of reduced cortical thickness in children with intractable FLE.

Methods: High-resolution volumetric T(1)-weighted imaging was performed on 17 children with FLE, who were being evaluated for epilepsy surgery, and 26 age-matched healthy controls.