dr_jojo
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9. A 3-month-old boy is brought for a well-child examination. He has poor head control. Examination shows Generalized Hypotonia. The point of maximal impulse is at the left anterior axillary line. The liver edge is palpated 4 cm below the right costal margin. The spleen is not palpable. Which of the following is the most likely diagnosis?
A
) Congenital muscular dystrophy
B
) Glycogen storage disease, type II (Pompe's disease) !
C
) GM1 gangliosidosis !
D
) Infant botulism
E
) Ventricular septal defect
what is the DD of hypotonia in a neonates , infants , kids
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| charu78
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I think the ans is---a Congenital muscular dystrophy.
The liver dosnt fit in ...but normally infants do have liver palpable upto 2cm so dont know
The causes of floppy infant are as follows -- these are the common ones
Down syndrome, muscular dystrophy, cerebral palsy, Prader-Willi syndrome, myotonic dystrophy, and Tay-Sachs disease.
Could be GM1 gangliosidosis but they usually have coarse facies with cherry red spot...
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| Aashi
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B) Glycogen storage disease, type II (Pompe's disease)
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| robin082006
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B
) Glycogen storage disease, type II (Pompe's disease) !
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| r_albayunen
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B 
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| fongch
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Can someone please explain?
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| vradojc1
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B
explanation from Behrman: Nelson Textbook of Pediatrics, 17th ed.
"Type II glycogen storage disease is caused by a deficient activity of lysosomal acid α1,4 glucosidase (acid maltase), an enzyme responsible for the degradation of glycogen in lysosome. The disease is characterized by accumulation of glycogen in lysosomes as opposed to its accumulation in cytoplasm in the other glycogenoses.
Pompe disease is an autosomal recessive disorder with an incidence of 1/40,000 live births with no ethnic predilection. The gene for acid α-glucosidase is on chromosome 17q25.2. A splice site mutation (IVS1-13T➙G), commonly seen in adult-onset patients, may be helpful in delineating the phenotypes.
Clinical Manifestations.
The disorder encompasses a range of phenotypes, each including myopathy but differing in age at onset, organ involvement, and clinical severity. The most severe is the infantile-onset disease, with prominent cardiomegaly, hypotonia, and death before 2 yr of age. Infants appear normal at birth but soon experience generalized muscle weakness with “floppy infant appearance,” feeding difficulties, macroglossia, hepatomegaly, and heart failure from a progressively hypertrophic cardiomyopathy. Electrocardiographic findings include a high-voltage QRS complex and a shortened PR interval. Death usually results from cardiorespiratory failure or aspiration pneumonia.
The juvenile form presents as delayed motor milestones (if age at onset is early enough) or difficult walking in childhood and is followed by swallowing difficulties, proximal muscle weakness, and respiratory muscle involvement. Death from respiratory failure may occur before the end of the 2nd decade. Cardiomegaly is variable, but overt cardiac failure is not seen.
An adult form of type II disease presents as a slowly progressive myopathy without cardiac involvement and has its onset between the 2nd and 7th decades. The clinical picture is dominated by slowly progressive proximal muscle weakness with truncal involvement and greater involvement of the lower limbs than the upper limbs. The pelvic girdle, paraspinal muscle, and diaphragm are the muscle groups most seriously affected. The initial symptoms in some patients may be respiratory insufficiency manifested by somnolence, morning headache, orthopnea, and exertional dyspnea, which eventually lead to sleep-disordered breathing and respiratory failure."
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