Clinical_Rounds_in_Endocrinology_Volume_II_-_Pediatric_Endocrinology

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Site Clinical features

Thorax Rachitic rosary

Harrison’s sulcus

Pectus carinatum

Spine and

pelvis

Kyphosis

Scoliosis

Lumbar lordosis

Neuromuscular Hypotonia, pot belly

Delayed motor development

Tetany, seizures

31. How does the age of onset of rickets help in the differential diagnosis of
    rickets/osteomalacia?
    The age of onset of rickets/osteomalacia is an important clue for differential
    diagnosis as different disorders typically manifest at specific ages. These are
    summarized in the table given below.

Age Etiology Remarks

Infancy Vitamin D deficiency Exclusively breast-fed infants

Vitamin D-dependent rickets type 1 Hypocalcemic tetany

Vitamin D-dependent rickets type 2 Alopecia

Hypophosphatasia Craniosynostosis

Low alkaline phosphatase

Hypercalciuria

Childhood Vitamin D deficiency Nutritional

Malabsorption

Celiac disease

Renal rickets Renal tubular acidosis

Proximal RTA

Fanconi’s syndrome

Isolated

Distal RTA

Chronic kidney disease

Familial hypophosphatemic rickets X-linked variant

Enthesopathy

Fractures Dental caries/dental

abscess

Hypophosphatasia Low alkaline phosphatase

Adult onset Vitamin D deficiency Bone pain, pseudo-fracture

Tumor-induced osteomalacia Severe hypophosphatemia

Familial hypophosphatemic rickets Autosomal dominant variant

Hypophosphatasia Stress fractures

Osteoarthritis

Low alkaline phosphatase

5 Rickets–Osteomalacia