Q-111. A child with an obvious rash presents with recurrent infections. Investigation revealed decreased platelet count and reduced IgM. Which of the following is the most likely diagnosis?
a) Idiopathic thrombocytopenic purpura
b) Thrombotic thrombocytopenic purpura
c) Wiskott- Aldrich syndrome
d) Di’ George anomaly
Answer: Wiskott- Aldrich syndrome
Explanation:
Wiskott- Aldrich syndrome:
X-linked recessive
The syndrome results from mutation of the WASP gene at X11p.
Patients with Wiskott- Aldrich syndrome have thrombocytopenia, eczema, and recurrent infection.
Low level of platelets and IgM
Q-112. A 7 year old child presents to the pediatric clinic with ambiguous genitalia increasing with age. On examination her height, weight and blood pressure were recorded within normal limits. Labia appeared bifid with 2 separate perineal openings, phallic length was 2.5 cm and no palpable gonads were noted in the inguinal region. USG shows presence of mullerian structures. The most probable diagnosis is
a) Classic salt-wasting 21 hydroxylase deficiency
b) Simple virilizing congenital adrenal hyperplasia
c) Complete androgen insensitivity syndrome
d) 5-alpha reductase deficiency
Answer: Simple virilizing congenital adrenal hyperplasia
Explanation:
Congenital adrenal hyperplasia (21 Hydroxylase deficiency): Types
Classic salt wasting form:
Severe form of deficiency (Potentially life threatening condition)
Glucocorticoid
Mineralo-corticoid deficiency (Vomiting, dehydration, hypotension, hyper-kalemia etc)
Androgen excess (Ambiguous genitalia in female)
Manifest early between 7-21 days of life
Classic simple virilizing form:
Glucocorticoid deficiency (Cortisol)
Overproduction of androgen (Ambiguous genitalia in female varying degree of clitoral enlargement and labial fusion)
Non classic/ Acquired/ Late form:
Overproduction of androgen
Q-113. A child with decreased levels of LH, FSH and testosterone presents with delayed puberty. Which of the following is the most likely diagnosis?
a) Klinefelter’s syndrome
b) Kallman’s syndrome
c) Androgen insensitive syndrome
d) Testicular infection
Answer: Kallman’s syndrome
Explanation:
Kallman’s syndrome:
X-linked disorder characterized by deficiency of GnRH with resultant decreases in FSH and LH levels producing an isolated hypo-gonadotrophic hypogonadism.
It is more common in men. (↓ GnRH→ ↓ FSH and LH → ↓ Testosterone)
Important point:
It is typically also associated with agenesis or hypoplasia of olfactory bulb producing anosmia or hyposmia.
Q-114. Which of the following hormones are raised in Prader-Willi syndrome?
a) Growth hormone (GH)
b) Luteinizing hormone (LH)
c) Follicle stimulating hormone (FSH)
d) Ghrelin
Answer: Ghrelin
Explanation:
Prader-Willi syndrome:
It is associated with hypo-gonadotrophic hypogonadism ((↓ GnRH→ ↓ FSH and LH) and decreased circulating levels of growth hormone.
It is associated with elevated circulating levels of Ghrelin (↑Ghrelin→ Hyperphagia → Obesity).
Infants commonly exhibit hypotonia, poor suck, weak cry, and genital hypoplasia (eg, cryptorchidism, scrotal hypoplasia, clitoral hypoplasia).
Toddlers demonstrate late acquisition of major motor milestones.
Children aged 1-6 years present with symptoms of hyperphagia with progressive development of obesity.
Important points:
Prader-Willi syndrome results from the loss of imprinted genomic material within the paternal 15q11.2-13 locus.
The loss of maternal genomic material at the 15q11.2-13 locus results in Angelman syndrome.
Neonatal hypotonia is one of the hallmark features of Prader-Willi syndrome and is a valuable clue to initiate diagnostic testing.
Q-115. Which of the following is the most common tumor of the fetus and newborn?
a) Neuroblastoma
b) Wilm’s tumor
c) Leukemia
d) Sacro-coccygeal teratoma
Answer: Sacro-coccygeal teratoma
Explanation:
Sacro-coccygeal teratoma is the most common neoplasm in the fetus and newborn.
Q-116. Which of the following is the treatment of choice for stage-I Wilm’s tumor?
a) Laparoscopic Nephrectomy
b) Open nephro-ureterectomy
c) Chemotherapy
d) Observation
Answer: Open nephro-ureterectomy
Explanation:
Treatment of choice for stage-I Wilm’s tumor:
Radical Nephrectomy (Radical nephro-ureterectomy) followed by chemotherapy with or without radiotherapy depending on tumor histology.