Pediatrics: AIIMS NOV 2011

  1. Which among the following is the most appropriate investigation for a leaking meningomyelocele?
    a) Blood culture
    b) Wound culture
    c) Urine culture
    d) Rectal swab

Answer: Wound culture
Explanation:
Infants with leaking meningomyelocele are at risk of meningitis.
The most appropriate investigation for a leaking meningomyelocele CSF examination and culture and it can be obtained from leaking meningomyelocele.

  1. The important fatty acid present in breast milk which is important for growth is?
    a) Docosahexaenoic acid
    b) Palmitic acid
    c) Linoleic acid
    d) Linolenic acid

Answer: Docosahexaenoic acid
Explanation:
Docosahexaenoic acid is an important omega 3 fatty acid essential for the development of brain.
Breast milk boosts brain growth because it contains lots of DHA.

  1. NESTROFT test is used in screening of
    a) Thalassemia
    b) Autoimmune hemolytic anemia
    c) Spherocytosis
    d) G6PD deficiency

Answer: Thalassemia
Explanation:
The NESTROFT method (Naked Eye Single Tube Red Cell Osmotic Fragility Test) is a suitable test for screening for beta-thalassemia and the common hemoglobinopathies.

  1. A newborn presents with congestive heart failure, on examination his bulging anterior fontanellae with a bruit on auscultation. Trans-fontanellar USG shows a hypoechoic midline mass with dilated lateral ventricles. Most likely diagnosis is
    a) Medulloblastoma
    b) Encephalocele
    c) Vein of Galen malformation
    d) Arachnoid cyst

Answer: Vein of Galen malformation
Explanation:
Antenatal ultrasound: Vein of Galen malformation
The dilated median prosencephalic vein appears as an anechoic structure in the midline posteriorly.
Aneurysmal malformations of the vein of Galen typically result in high-output congestive heart failure or may present with developmental delay, hydrocephalus, and seizures.

  1. PGE causes worsening in infant with
    a) PS without VSD
    b) Hypoplastic left heart syndrome
    c) Obstructive TAPVC
    d) Obstruction in aorta

Answer: Obstructive TAPVC
Explanation:
In infants with or who have a clinical suspicion for a ductal dependent congenital heart defect, prostaglandin E1 should be administered.
Ductal independent lesions:
TAPVC
Truncus arteriosus
Anomalous origin of the left main coronary artery from the pulmonary artery

  1. Premature baby of 34 weeks was delivered. Baby had bullous lesion on the body. X-ray shows periostitis. What is the next investigation?
    a) VDRL for mother and baby
    b) ELISA for HIV
    c) PCR for TB
    d) Hepatitis surface antigen for mother

Answer: VDRL for mother and baby
Explanation:
Congenital Syphlis:
Newborn:
Anemia
Thrombocytopenia
Hepato-splenomegaly
Characteristic radiographic bone changes
Young Infants:
Snuffles
Maculo-papular skin rashes and Muco-cutaneous lesion
Pseudo-paralysis
Characteristic radiographic bone changes
Children:
Interstitial keratitis
Sober shins
Gummas of nose and palate
Characteristic radiographic bone changes:
Metaphyseal lucent bands
Periostitis
Bilateral symmetrical osteomyelitis with pathological fractures of the medial tibial metaphyses (Wimberger sign) is almost pathognomonic.

  1. What is the diagnosis in a patient who has situs inversus and sinusitis?
    a) Kartagener Syndrome
    b) Goodpasture’s syndrome
    c) Cystic fibrosis
    d) William Campbell syndrome

Answer: Kartagener Syndrome
Explanation:
Kartagener Syndrome: Clinical triad
Situs inversus
Chronic sinusitis
Bronchiectasis
Important point:
Kartagener syndrome (KS) is inherited via an autosomal recessive pattern. Symptoms result from defective cilia motility.

  1. Short child with low T4 and raised TSH and swelling of pituitary, what is the diagnosis
    a) Pituitary tumour
    b) Primary hypothyroidism
    c) TSH secreting pituitary adenoma
    d) TSH resistance

Answer: Primary hypothyroidism
Explanation:
Primary hypothyroidism:
TT4 and FT4 levels decreased
Raised TSH
Important point:
With long standing hypothyroidism, thyrotroph hyperplasia can result in expansion of sella turcica and enlargement of the pituitary gland.

  1. Karyotyping of the fetus can be done in all except:
    a) Chorionic villus sampling
    b) Cordocentesis
    c) Amniocentesis
    d) Fetal skin biopsy

Answer: Fetal skin biopsy
Explanation:
Karyotyping of the fetus can be done in:
Amniocentesis
Chorionic villus sampling
Cordocentesis for fetal blood sampling
Fetal Skin, Liver and Muscle Sampling (Rare)
Important point:
Conditions which can be detected by fetal skin sampling include anhidrotic and hypohidrotic ectodermal dysplasia, epidermolysis bullosa, oculo-cutaneous albinism, and Sjögren Larsson syndrome.

  1. A downs child mentally retarded a/e
    a) Deleted 21
    b) Trisomy 21
    c) Robertsonian translocation
    d) Mosaic

Answer: Deleted 21
Explanation:
Down’s syndrome, also known as trisomy 21, is a genetic disorder caused by the presence of all or part of a third copy of chromosome 21.
Causes of trisomy 21 in Down syndrome:
Complete extra copy of chromosome 21
Mosaic
Robertsonian translocation
Iso-chromosome
Ring chromosome

  1. Episodic anemia and jaundice since birth except
    a) G-6-P D
    b) Sickle cell anemia
    c) Paroxysmal nocturnal hemoglobinuria
    d) Hereditary spherocytosis

Answer: Sickle cell anemia and Paroxysmal nocturnal hemoglobinuria
Explanation:
Jaundice present at birth:
Erythroblastosis fetalis (Most common cause)
ABO incompatibility
Concealed hemorrhage
Congenital infection and sepsis
G-6-P Dehydrogenase deficiency
Hereditary spherocytosis

  1. All the following can occur in a neonate for heat production except
    a) Shivering
    b) Breakdown of brown fat with adrenaline secretion
    c) Universal flexion like a fetus
    d) Cutaneous vasoconstriction

Answer: Shivering
Explanation:
In adults, the responses to a cold body temperature include peripheral vascular constriction, inhibition of sweating, voluntary muscle movements, involuntary muscle movements (shivering) and non-shivering thermogenesis.
Non-shivering thermogenesis is the main mechanism of heat production in neonates. The major source of heat energy in neonate is brown fat.