<prompt> Autosomal recessive, cancer syndrome in children is -NeurofibromatosisAtaxia-telongiectasiaSturge-weber syndromeTuberous sclerosis complex  <response>: B Ataxia - telangiectasia 325 - IAP. Text book of Pediatrics 5thATAXIA - TELANGIECTASIA: Degenerative disease of nervous system. Autosomal recessive mutation in ATM gene on chromosome 1 lq22 - q23. Characterised by:I. Progressive ataxia Nystagmus, strabismusII. Recurrent sinopulmonary infectionsIII. Ocular telangiectasiaIV. Increased incidence of lymphoreticular malignancies. Decreased secretory IgA, loss of skin elasticity, elevated a-fetoprotein. Patients have a greatly increased risk of developing tumors lymphoma, leukemia, Hodgkins disease brain tumor etc. Death usually occurs by adolescence or young adult hood, and is due to infection or malignancy.STURGE - WEBER SYNDROME: Angioma of the face port-wine stain and ipsilateral leptomeningeal angioma. Ipsilateral parietal and occipital regions arc most commonly affected. Seizures that are refractory to medical management. Contralateral hemiparesis, and half may have mental retardation and developmental problems. Around 60 patients have recurrent headache ocular problems include glaucoma in 25 patient due to choroidal involvement heterochromia iris and strabismus. MRICT scan - typical linear parallel, intracranial calcification evident on skull radiography tram-track sign in parietal or parieto-occipital region.TUBEROUS SCLEROSIS COMPLEX Autosomal dominant 9 q34 and 16 p 13 gene product tuberin Seizure 85 mental retardation 5 skin lesions 95 and autism upto half of the patient. Major brain abnormalities include cortical tubers and subependymal nodule which may develop into subependymal giant cell tumors in 5 - 10 patients, Epilepsy is the commonest presenting features Skin manifestation include - angiofibroma adenoma sebaceum pinkish papules in patches around the nose. Check and Chin : Hypopigmented macules over trunk and limbs ash leaf macule, connective tissue hamartomas Shagreen patch are usually found in the lumbosacral regions. Renal involvement causes - angiomyolipomas and renal cysts. Cardiac rhabdomyoma - can cause obstruction, conduction defects and valvular dysfunction. Retinal hamartomas, Lung hamartomas.NEUROFIBROMATOSIS: Autosomal dominant gene NF1 located on 17 ql 1.2 chromosome product is neurofibromin. NF 2 - hall mark is bilateral vestibular schwannomas Commonest skin features - Cafe-au-lait spots, cutaneases neurofibromatosis are discrete, soft or firmpapules, plexiform neuroma. Hamartomas of the iris LISH NODULES, optic glioma and astrocytomas of intracranial structure may occur. Congenital glaucoma, spontaneous limb fractures with pseudo arthrosis macrocephaly, short stature and scoliosis. Approximately 5 patient have developmental disabilities attention-deficit hyperactivity disorder. 