Case no: 2

This patient is 3 yr male child complaining of recurrent cough and fever episode since 6 months of age. He was admitted for cough and fever two times. There is deformity of right hand as shown in the clinical picture.


Question: Name the syndrome and congenital anomalies associated with this syndrome?

Spot diagnosis of clinical pictures

Answer of Picture 1.

1) This is ***** 3 yr old complaining of not gaining weight and bony deformity gradually increasing since birth.

Question 1: Identify the condition and give 3 differential diagnosis for the cause of this condition? 

Answer 1: This is most severe or florid form of rickets. This is picture of pt of cystinosis with florid rickets.

Differential diagnosis of florid rickets: 

1) Fanconi syndrome: Cystinosis, oculocerebrorenal syndrome (Lowe syndrome).

2) X-linked hypophosphatemic rickets.

3)  Vitamin D–dependent rickets type 1, Vitamin D–dependent rickets type 2.

Causes of Rickets

VITAMIN D DISORDERS

Nutritional vitamin D deficiency

Congenital vitamin D deficiency

Secondary vitamin D deficiency

Malabsorption

Increased degradation

Decreased liver 25-hydroxylase

Vitamin D–dependent rickets type 1

Vitamin D–dependent rickets type 2

Chronic renal failure

CALCIUM DEFICIENCY

Low intake

Diet

Premature infants (rickets of prematurity)

Malabsorption

Primary disease

Dietary inhibitors of calcium absorption

PHOSPHORUS DEFICIENCY

Inadequate intake

Premature infants (rickets of prematurity)

Aluminum-containing antacids

RENAL LOSSES

X-linked hypophosphatemic rickets[*]

Autosomal dominant hypophosphatemic rickets[*]

Hereditary hypophosphatemic rickets with hypercalciuria

Overproduction of phosphatonin

Tumor-induced rickets[*]

McCune-Albright syndrome[*]

Epidermal nevus syndrome[*]

Neurofibromatosis[*]

Fanconi syndrome

Dent disease

1) This is ***** 3 yr old complaining of not gaining weight and bony deformity gradually increasing since birth.

Question 1: Identify the condition and give 3 differential diagnosis for the cause of this condition? 

Answer will be blogged on 11/2/11