Jeune asphyxiating thoracic dystrophy, an autosomal recessive chondrodysplasia, often leads to death in infancy because of a severely constricted thoracic cage and respiratory insufficiency; retinal degeneration, cystic renal disease and polydactyly may be complicating features. We show that IFT80 mutations underlie a subset of Jeune asphyxiating thoracic dystrophy cases, establishing the first association of a defective intraflagellar transport (IFT) protein with human disease. Knockdown of ift80 in zebrafish resulted in cystic kidneys, and knockdown in Tetrahymena thermophila produced shortened or absent cilia.

We present the case of a 12yo female who presented to the emergency department with increasing agitation, confusion, fluctuating GCS, hydrocephalus, and deranged electrolytes. MRI revealed tumour in pineal region and filling the third ventricle. Biopsy and tumour markers confirmed the diagnosis of bifocal Non Germinomatous Germ Cell Tumour (NGGCT). The diagnosis was complicated with the secondary diagnoses of diabetes insipidus and profound permanent anterograde amnesia. Whilst DI is common in NGGT in pineal region, anterograde amnesia is a very rare condition in paediatrics. Thus there is paucity of literature available to the clinicians to know how much improvement to expect or how to target rehabilitation whilst undergoing curative therapy, chemotherapy and craniospinal irradiation; however the importance of a consistent and coordinated nursing and allied health team approach with structure and errorless learning must be initiated from the beginning if independence is to be achieved.

High survival rates in pediatric low-grade gliomas (pLGG) may overshadow potentially significant long-term toxicities and functional impact. Chemo-radiation sequelae are well documented, in contrast to those who undergo surgical resection or observation alone. We performed a retrospective cohort study from 2000-2015, assessing cognitive, academic, and quality of life (QoL) impact on 45 eligible pLGG survivors aged 0-16 years at diagnosis, at a median 7.4 years post-treatment. A multidisciplinary panel oversaw proxy questionnaires for young children (<7 years), proxy and self-reported for adolescents (8-15 years) and self-reported for young adults (>15 years). Data included demographics; tumor and treatment; early school (young child) progress; academic and occupation achievement (adolescents and young adults); health; and lifestyle issues. The incidence of abnormalities in the domains studied were compared to published population statistics. 16% of survivors underwent observation alone, and 84% surgery (58% complete resection). 57% of survivors experienced cognitive deficits. Young children (50%) and adolescents (42%) had low cognitive functioning scores, correlating with poor academic (p < 0.01) and standardised school educational tests’ performance. 42% of mainstream school attendees required learning support; 33% examination assistance; 50% completed secondary education and 22% a tertiary degree, but had attention (young child and adolescent), and memory (young adult) issues. 65.9% of survivors had at least one neurological concern, highest in adolescents (70%). Language deficits (42.9%), pain, fatigue, and hearing loss (28.6 %) in young children; and vision/sleep difficulties (35%); fatigue (30%) and mobility (25%) in adolescents were reported. Young adults suffered headaches (47.1%) and fatigue (29.4%). Young children (57%) suffered more emotional disturbance than adolescents (16%). Anxiety (23%) and depression (14%) reflected poor QoL on Emotion Thermometer scales in all survivors. These findings challenge the ‘benign’ label of pLGG and highlights the importance of close psychosocial surveillance in helping survivors achieve their best emotional and educational potential.