Osteopathia striata with cranial sclerosis, associated with juvenile idiopathic arthritis: A case report and review of literature

Table 1 Enzyme activity assessed by tandem mass spectrometry (electrospray ionization-tandem mass spectrometry)

Enzyme	Activity (μmol/L/hour)	Reference range (μmol/L/hour)
Galactocerebrosidase	3.34	0.70-10.00
α-glucosidase	7.97	1.00-25.00
α-galactosidase	4.50	0.80-15.00
β-glucocerebrosidase	8.63	1.50-25.00
Sphingomyelinase	4.37	1.50-25.00
α-iduronidase	6.76	1.00-25.00

Table 2 Enzyme activity in the differential diagnosis of lysosomal storage disorders

Enzyme (associated disorder)	Activity (μmol/L/hour)	Reference range (μmol/L/hour)
N-acetyl-α-D-glucosaminidase (MPS IIIB)	5.41	1-20
Acetylgalactosamine-6-sulfatase (MPS IVA)	1.83	0.5-10
Arylsulfatase B (MPS VI)	2.95	1-15
β-D-galactosidase (GM1 gangliosidosis, MPS IVB)	8.57	2-30
β-D-glucuronidase (MPS VII)	33.69	10-65
Iduronate-2-sulfatase (MPS II)	16.31	10-50
Tripeptidyl peptidase 1 (neuronal ceroid lipofuscinosis type 2, CLN2)	58.05	15-85

MPS: Mucopolysaccharidosis.

Table 3 Synovial fluid analysis

Parameter	Unit	Result
Volume	mL	1
Color	-	Light yellow
Clarity	-	Slightly turbid
Protein	g/L	19.00
Native preparation (unstained)
Leukocytes	per HPF	6-8-10
Erythrocytes (fresh)	per HPF	2-4
Ragocytes	%	15
Stained preparation
Neutrophils	%	17
Lymphocytes	%	60
Macrophages	%	2
Other findings
Macrophages are morphologically similar to blood monocytes	-	21
Acid-fast bacilli	-	Not detected

HPF: High power field.

Table 4 Comparison table of the case with previous osteopathia striata with cranial stenosis cases

OSCS	OSCS and JIA
Macrocephaly	Inflammatory changes in synovial fluid
Facial nerve palsy caused by narrowing of cranial foramina and sclerosis of the skull base and vault	Arthritis
Conductive hearing loss	Age of onset < 16 years
Sclerosis of the facial bones and the mastoid region	Erosions, periostitis, growth disturbance
Hypertelorism	Joint-space narrowing, erosions, periarticular osteopenia
High forehead with prominent frontal tuberosities	Occasionally TMJ arthritis causing mandibular hypoplasia; otherwise, rare
Broad, depressed nasal bridge
Clubfoot
Spina bifida
Varying degrees of intellectual disability
Striated pattern in long tubular bones or sandwich-vertebrae

OSCS: Osteopathia striata with cranial stenosis; JIA: Juvenile idiopathic arthritis; TMJ: Temporomandibular joint.