A 3 1/2 month old female was referred to the paediatric department. She presented with weight loss, stridor, hypertonia, and abnormal visual tracking

A 3 1/2 month old female was referred to the paediatric department. She presented with weight loss, stridor, hypertonia, and abnormal visual tracking. The pregnancyhad gone full term with no complications during development or at delivery. Her neurological examination at birth was normal. Initially she regained birth weight quickly but the midwife noted weight-gaining difficulties from the start of the second month, when observing the mother feeding the baby she noted back arching. Additionally the midwife noteddevelopmental delays such as no social smile, no object tracking, nor engaging with environment, this spurred the midwife with the GP to arrange a referral to a Paeditrician. 

Physical exam showed an increased muscle tone, no tracking, brisk reflexes, mild stridor, mild hepatomegaly, and a small submucosal cleft palate.

Initial laboratory results showed the following:

Test	Result	Reference range
Sodium	138 mmol/L	133-146 mmol/L
Potassium	5.8 mmol/L	4.1-5.3 mmol/L
Chloride	112 mmol/L	98-107 mmol/L
CO2	22 mmol/L	21-31 mmol/L
Creatinine	0.3 mg/dL	0.1-0.6 mg/dL
Calcium	10.4 mg/dL	8.8-10.8 mg/dL
Glucose	87 mg/dL	57-117 mg/dL
Albumin	3.7 g/dL	3.8-5.4 g/dL
Total protein	5.4 g/dL	5.1-7.3 g/dL
Bilirubin	0.8 mg/dL	0.2-1.2 mg/dL
ALT	49 IU/L	14-54 IU/L
AST	70 IU/L	20-64 IU/L
Alkaline Phosphatase	362 IU/L	<360 IU/L
WBC	9.7 x109/L	6-17.3 x109/L
Haemoglobin	10.6 g/dL	9-14 g/dL
Haematocrit	30.9%	28-42%
Platelet count	200 x109/L	200 x109/L

Additional testing revealed: a normal blood amino acid analysis and normal urine organic acids. Karyotype was normal female (46, XX) with a normal female microarray analysis.

Lysosomal enzyme analysis:

Component	Value	Reference range
β - Galactosidase	169 nM/mgPr/h	141-319 nM/mgPr/h
β - Glucoronidase	227 nM/mgPr/h	296-595 nM/mgPr/h
α – Galactosidase	33 nM/mgPr/h	35-74 nM/mgPr/h
β – Glucosidase + TC	0 nM/mgPr/h	6-18 nM/mgPr/h
Arylsulfatase A	117 nM/mgPr/h	51-126 nM/mgPr/h
Arylsulfatase B	129 nM/mgPr/h	44-146 nM/mgPr/h
Total Hexosaminidase	1429 nM/mgPr/h	2243-4656 nM/mgPr/h
% Hexosaminidase A	63%	54-66%

Analysis of very long chain fatty acids, phytanic acid, and pristanic acid in plasma revealed that values for all species were essentially within normal limits.

Acyl-carnitines in serum or plasma were mildly elevated for C:2 and minimally elevated for C:4-OH. No other elevations of acyl-carnitine species were seen.

Questions

1. What is the pathogensis of this disease?

2. This disorder presented in this case in early childhood but there are alternative versions of the disease. What are the different treatments for this diseases?

3. The parents of this child are keen to have another child what advice do they need in regards of inheritance?

Click Here For More Details on How to Work on this Paper......
Need a Professional Writer to Work on this Paper and Give you a 100 % Original Paper? Click Here and Get this Essay Done………………