The mutational spectrum of hunter syndrome reveals correlation between biochemical and clinical profiles in Tunisian patients

Table 3 Clinical findings of the MPS II patients

MPS II patients	P1	P2	P3	P4	P5	P6	P7	P8	P9	P10	P11	P12
Age at diagnosis (year/month)	4	1/6	4	6	3	4/2	4	3	2	3	9	12
Age (years)	4	18	22	26	5	5	7	9 (died)	9 (died)	19 (died)	29 (died)	39 (died)
Recurrent clinical symptoms
Hepatosplenomegaly	++	++	++	++	+	++	++	++	++	++		++
Coarse facies: Broad noses, Macroglossia	++	++	++	++	++	++	++	++	++	++	++	++
Cranial dysmorphism: macrocrania	++	+++	+++	++	++	++	++	+	++	++	++	++
Psychomotor retardation	++	+++	+++	++	+	++	+++	++	+++	+++	++	++
multiple dysostosis: joint stiffness, oval vertebrae	++	+++	+++	++	++	++	+++	+++	+++	+++	+++	+++
Osteopenia	++	++	++	+++	++	+++	++	++	++	++	+++
Mental retardation	++	+++	++	++	+	++	++++	++				++
Respiratory problems: nasal obstruction, sleep apnea	++	++	++	++	++	++++	++++	++	++	++	++	++
Causes aggravating respiratory problems: otitis, large language and adenoids.	++	++	++	++	++	++++	++++	++	++	++	++	++
Cardiovascular involvement: arrhythmia and congestive heart failure	++	++	++	++	++	+	++++	++	++	++	++	++
Specific clinical symptoms
	Multiple hernia			Blood smear shows an overload	Blood smear shows an overload Dysphasia		Skin involvement					Rhinorrhea umbilical hernia

ISSN: 1471-2350