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:
|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|
|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:
|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.
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