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Degenerative Diseases of the Nervous System
Published in Philip B. Gorelick, Fernando D. Testai, Graeme J. Hankey, Joanna M. Wardlaw, Hankey's Clinical Neurology, 2020
James A. Mastrianni, Elizabeth A. Harris
The above symptoms and signs are sometimes complicated by other CNS and non-CNS organ system involvement. Other CNS changes include occipital encephalocele, agenesis of the corpus callosum, and variable brainstem anomalies. Non-CNS involvement can include: Ocular disorders: colobomas and blindness secondary to Leber's congenital amaurosis; a late-onset degenerative pigmentary retinopathy has also been reported in AHI1 patients.5Up to 30% of cases of Joubert's syndrome are associated with renal involvement. Typical renal involvement includes either cystic dysplasia or juvenile nephronophthisis (NPHP).6A subset of patients has involvement of cerebellum, eyes, and renal system (so called cerebello-oculo-renal syndrome, CORS).Joubert's syndrome can also occur as a component of COACH syndrome (cerebellar vermis hypo/aplasia, oligophrenia, ataxia congenital, coloboma, and hepatic fibrosis).7 These patients can also have renal failure as in CORS.
Paper 3
Published in Amanda Rabone, Benedict Thomson, Nicky Dineen, Vincent Helyar, Aidan Shaw, The Final FRCR, 2020
Amanda Rabone, Benedict Thomson, Nicky Dineen, Vincent Helyar, Aidan Shaw
What is the most likely underlying diagnosis?Autosomal recessive polycystic kidney diseaseJuvenile nephronophthisisMesoblastic nephromaMulticystic dysplastic kidneyCystic nephroma
Renal and urinary tract diseases
Published in Angus Clarke, Alex Murray, Julian Sampson, Harper's Practical Genetic Counselling, 2019
Juvenile nephronophthisis is an autosomal recessive disease that has early onset and will often lead to end-stage renal failure in childhood. It is autosomal recessive in inheritance and is often accompanied by non-renal features, such as features of a more generalised ciliopathy as in Jeune's asphyxiating thoracic dystrophy, Joubert syndrome (with cerebellar hypoplasia), Bardet-Biedl syndrome (with polydactyly and obesity) or Meckel-Gruber syndrome (with malformation of the central nervous system, notably occipital encephalocoele and polydactyly). The ciliopathies comprise a varied group of disorders that share many features but also show great locus heterogeneity. They have been a focus of some very productive research into disease mechanisms in embryogenesis.
Dual phenotype: co-occurring Leber congenital amaurosis and familial exudative vitreoretinopathy: a case report
Published in Ophthalmic Genetics, 2023
Virginia Miraldi Utz, Jared J. Ebert, Diana S. Brightman, Brittany N. Simpson, Stefanie Benoit, Robert A. Sisk
IQCB1 encodes the protein nephrocystin-5, which is expressed in the connecting cilia of photoreceptor cells and the primary cilia of renal epithelial cells (https://doi.org/10.1038/ng1520). Thus, biallelic pathogenic variants in IQCB1 lead to a ciliopathy with both ocular and renal manifestations known as Senior Loken Syndrome 5 (SLS 5). The ocular findings include early-onset, severe retinal degeneration, and vision loss. The renal component is called juvenile nephronophthisis, and is a progressive cystic kidney disease characterized by polyuria, anemia, and decreasing kidney function that typically results in end-stage kidney disease in early adolescence (https://doi.org/10.1111/nep.13393). Hence, early nephrology involvement is imperative, and routine screening must be performed to detect early stages of renal disease.
Investigation of CEP290 genotype-phenotype correlations in a patient with retinitis pigmentosa, infertility, end-stage renal disease, and a novel mutation
Published in Ophthalmic Genetics, 2020
Madeline Williamson, Elias Traboulsi, Meghan DeBenedictis
He also had a history of juvenile nephronophthisis which had progressed to end stage renal disease resulting in a left kidney transplant at age 14 years. Other health history included cholecystectomy at age 15 years. His clinical diagnosis was revised from Leber congenital amaurosis to Senior Loken syndrome at that time. By age 19 he had lost the entirety of his peripheral vision. At age 20, he was diagnosed with new-onset juvenile myoclonic seizures that have since been well-controlled with anticonvulsants. Around the time of onset of his seizures, visual acuity was 20/100 in the right eye and 20/170 in the left eye, and his fundus exam findings included mild optic nerve pallor in both eyes and stable pigmentary changes without evidence of cystoid macular edema. Developmentally, the patient had never exhibited signs of delayed milestones or intellectual disability. He graduated from high school, attended college, and was able to work until his vision deficits advanced. An MRI done at the time of his seizure onset was unremarkable and did not show evidence of a molar tooth sign or other abnormalities. At age 28 he required surgical retrieval and reattachment of a slipped right medial rectus muscle.
Copy-number variation of the NPHP1 gene in patients with juvenile Nephronophthisis
Published in Acta Clinica Belgica, 2021
Mayssa Abdelwahed, Ines Maaloul, Valerie Benoit, Pascale Hilbert, Mongia Hachicha, Hassen Kamoun, Leila Keskes-Ammar, Neila Belguith
In this study, two Tunisian children, from two unrelated families with nephronophthisis were diagnosed based on renal ultrasound and clinical manifestations. They have a history of polydipsia and polyuria, anemia, growth retardation and without any extra-renal involvement. In general, the clinical expression of juvenile nephronophtisis is highly variable; Indeed, the majority of patients have isolated (NPHP (OMIM: 256,100)) [6,15] or syndromic nephronophthisis accompanied by abnormalities in other organs, including retinal degeneration (Senior-Loken syndrome: SLS (OMIM: 266,900)) [23] or Joubert syndrome (JBTS (OMIM: 213,300)) [24].