J Endocrinol Metab

Journal of Endocrinology and Metabolism, ISSN 1923-2861 print, 1923-287X online, Open Access

Article copyright, the authors; Journal compilation copyright, J Endocrinol Metab and Elmer Press Inc

Journal website https://www.jofem.org

Case Report

Volume 11, Number 2, April 2021, pages 56-64

Clinical Variability of Hypophosphatasia in Colombian Patients: Case Reports

Figures

Figure 1. Horizontalization of the rib arches, decreased bone mineral density and slight thickening of the chondrocostal junctions (arrows).

Figure 2. Before the treatment: alteration in the morphology of femurs with angulation of the diaphysis, mineralization defects in the bilateral metaphyses of the femurs, tibiae and fibula; alteration in the density and morphology of the long bones of the lower limbs (arrows).

Figure 3. After 3 months of treatment with asfotase. A decrease in the angulation of the diaphysis of the long bones is observed, the “tongue” defects disappear and there is an increase in bone mineralization and a decrease in metaphyseal widening (arrow).

Figure 4. Genu varum, shortening of the left lower limb, loss of bone substance from the distal third of the left fibula, change of osteoarthritis in the knees and at the level of the neck of the left foot and marked osteopenia (arrows).

Figure 5. Lateral cranial X-ray: craneosynostosis is observed with a beaten silver appearance of the skull (arrow).

Figure 6. Magnetic resonance imaging of both knees: characteristic metaphyseal images on tongue (arrows).

Figure 7. Bilateral genu valgum with multiapical deformities in the femur and tibia (arrow).

Figure 8. Narrow thorax, chest deformity: the ribs appear swollen; beading and cupping are seen in their anterior ends, hypomineralization and scoliosis (arrow).

Figure 9. Spinal X-ray (2015): left scoliosis with a Cobb angle of 40° and decrease of bone mineralization (arrow).

Tables

**Table 1.** Laboratory Profile of Hypophosphatasia Patients
Laboratory test	Case 1	Case 2	Case 3	Case 4	Case 5	Case 6	Case 7
ND: no data.
Alkaline phosphatase	< 20 U/L	9.0 U/L	116.6 U/L	114 U/L	31 U/L	30 U/L	27.4 U/L
Calcium	9.5 mg/dL	9.4 mg/dL	10.71 mg/dL	9.3 mg/dL	9.8 mg/dL	10.3 mg/dL	10 mg/dL
Phosphorus	8.6 mg/dL	4.8 mg/dL	5.24 mg/dL	5.75 mg/dL	3.1 mg/dL	5.9 mg/dL	6.4 mg/dL
Parathyroid hormone	19.2 pg/mL	57.6 pg/mL	24.0 pg/mL	26.35 pg/mL	31 pg/mL	67 pg/mL	40.9 pg/mL
Vitamin D	22.7 ng/mL	17.8 ng/mL	53.2 ng/mL	36.4 ng/mL	38.9 ng/mL	ND	28.3 ng/mL

**Table 2.** Clinical, Molecular and Radiographic Findings
	Case 1	Case 2	Case 3	Case 4	Case 5	Case 6	Case 7
+: present; -: absent.
Gender	M	M	M	M	M	M	F
Age of onset of symptoms	In utero	3 years	10 months	18 months	2 years	10 months	8 months
Age of diagnosis	At birth	3 years	5 years	12 years	13 years	6 years	9 years
History of motor development delay	-	-	-	+	+	+	+
Dental manifestations	NA	+	+	+	+	+	+
Fractures	-	+	-	-	-		-
Seizures	-	-	-	-	-	+	-
Craniosynostosis	-	-	+	-	-	+	-
Short stature	+	+	+	+	+	+	+
Scoliosis	-	+	-	-	-	+	+
Limb deformity	+	+	-	+	+	+	+
ALPL mutations	p.Glu298Lys/p.Glu298Lys	p.Ala132Thr/p.Glu191Lys	p.Glu298Lys	p.Gly112Arg	p.Glu298Lys/p.Glu298Lys	p.Glu298Lys/p.Glu298Lys	p.Glu298Lys/p.Glu298Lys
Type of hypophosphatasia	Perinatal benign	Childhood	Childhood	Childhood	Childhood	Childhood	Childhood