MCQS 173-175 :A 9 year old boy with persisitent vomiting is found to have a Deficiency of 21-hydroxylase.

A 9 year old boy with persisitent vomiting is found to have a Deficiency of 21-hydroxylase. A likely diagnosis is :
a) psychogenic
b) achalasia
c) cyclical vomiting
d) mesenteric adenitis
e) Pertussis syndrome
f) Reye syndrome
g) urinary tract infection
h) appendicitis
i) Gastroenteritis
j) Adrenogenital syndrome

delusions, hallucinations,disorganized speech and a a sharp deterioration from the patient's prior level of functioning are features most suggestive of
a) dissociative disorder
b) Major depressive disorder
c) Histrionic personality disorder
d) schizophrenia
e) dysthymic disorder
f) communication disorder
g) post-traumatic stress disorder
h) Obsessive-compulsive disorder
i) Rett's disorder
j) mental retardation
The presence of photosensitivity and nephritis in a 14 year old with fever and joint pain is suspicious of
a) Acute Lymphoblastic Leukemia
b) Juvenile rheumatoid arthritis
c) Infectious mononucleosis
d) Idiopathic thrombocytopenic purpura
e) systemic lupus erythematosus
f) Aplastic anemia
g) Neuroblastoma
h) Retinoblastoma
i) Rhabdomyosarcoma
j) Burkitt's lymphoma

Correct Answer: J
Congenital adrenal hyperplasia (CAH) is a family of autosomal recessive disorders of adrenal steroidogenesis leading to a deficiency of cortisol. The deficiency of cortisol results in increased secretion of corticotropin, which, in turn, leads to adrenocortical hyperplasia and overproduction of intermediary metabolites. Severe and mild forms of these disorders, caused by variations in the severity of the genetic mutations, have been reported. Depending on the enzymatic step that is deficient, there may be signs, symptoms, and laboratory findings of mineralocorticoid deficiency or excess; incomplete virilization or premature androgenization of the affected male; and virilization or sexual infantilism in the affected female Deficiency of 21-hydroxylase accounts for 90% of affected patients. This P450 enzyme (P450c21) hydroxylates progesterone and 17-hydroxyprogesterone (17-OHP) to yield 11-deoxycorticosterone (DOC) and 11-deoxycortisol
Correct Answer: D
The clinical criteria for the diagnosis of schizophrenia include that the patient must exhibit two or more of the following symptoms: delusions, hallucinations, disorganized speech, grossly disorganized or catatonic behavior, and negative symptoms such as flattening of affect, poverty of speech, or an inability to perform goal-directed activities. Second, there must be a sharp deterioration from the patient's prior level of functioning (work, school, self-care, or interpersonal relations), and there must be continuous signs of disturbance (including prodromal symptoms) for at least 6 months Delusions are 'erroneous beliefs that usually involve a misinterpretation of perceptions or experiences'. Although the distinction between a delusion and a strongly held belief can at times be difficult to make, the bizarre delusions associated with schizophrenia are clearly implausible and not understandable and do not derive from ordinary life experiences.The delusions seen with schizophrenia are most often persecutory, religious, or somatic in nature. They most commonly involve a sense of loss of control over one's mind or body, such as having one's thoughts stolen, feeling that one is being manipulated by some outside force, or the belief that one's internal organs are rotting away.

Correct Answer: E
The presence of photosensitivity or nephritis should suggest the possibility of systemic lupus erythematosus (SLE)


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