Mucopolysaccharidosis Type II: A Kenyan Case Series

Table 1

Clinical characteristics of mucopolysaccharidosis type II patients at Kenyatta National Hospital.

Patient	Case 1	Case 2	Case 3	Case 4	Case 5	Case 6
Age in years when the guardian noted symptoms	4	3	3	3	3	3
Age in years at diagnosis	10	5	15	13	3	3
CNS symptoms and signs	Hyperactivity, poor cognitive function, irritability, not talking	Hyperactivity and irritability, poor cognitive function, mumbles things	Attention-deficit, poor cognitive function, language intact	Very intelligent despite being deaf, good school performance	Functionally normal	Severe CNS dysfunction
Respiratory symptoms	Enlarged tongue, gum hypertrophy, dyspnoea, sleep apnoea	Enlarged tongue, gum hypertrophy, dyspnoea, sleep apnoea	Enlarged tongue, gum hypertrophy, dyspnoea, sleep apnoea	Enlarged tongue, gum hypertrophy, dyspnoea, sleep apnoea	Snoring when asleep	Enlarged tongue, gum hypertrophy, dyspnoea, sleep apnoea
Abdomen	Umbilical hernia, hepatomegaly	Umbilical hernia, hepatomegaly	Umbilical hernia, hepatomegaly	Umbilical hernia, hepatomegaly	Umbilical hernia, hepatomegaly	Umbilical hernia, hepatomegaly
Ears	Recurrent otitis media and deaf	Recurrent otitis media and deaf	Recurrent otitis media and deaf	Recurrent otitis media and deaf	None	Recurrent otitis media and deaf
Skeletal	Carpal tunnel syndrome, multiple joint contractures	Carpal tunnel syndrome, multiple joint contractures	Carpal tunnel syndrome, multiple joint contractures	Carpal tunnel syndrome, multiple joint contractures	Carpal tunnel syndrome	Carpal tunnel syndrome, multiple joint contractures
Iduronate-2-sulfatase level, ref ≥5.6 μmol/L/h	<0.8 μmol/L/h	<0.8 μmol/L/h	<0.8 μmol/L/h	<0.8 μmol/L/h	<0.8 μmol/L/h	<0.8 μmol/L/h
Gene mutation type	Missense	Missense	Nonsense	Nonsense	Nonsense	Frameshift