Autosomal recessive, cancer syndrome in children is –
Correct Answer: Ataxia-telongiectasia
Description: (B) (Ataxia - telangiectasia) (325 - IAP. Text book of Pediatrics 5th)ATAXIA - TELANGIECTASIA:* Degenerative disease of nervous system. Autosomal recessive (mutation in ATM gene on chromosome 1 lq22 - q23).* Characterised by:I. Progressive ataxia (Nystagmus, strabismus)II. 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, Hodgkin's 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.* MRI/CT 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.
Category:
Pediatrics
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