Dr. Anju was on her duty in the rural part of the state. She came across a nuclear family of a child and his parents. The mother worked in the field and the father was a coal mine worker. They had a 5 year son. Dr. Anju examined the child, his limbs were pale and belly potruded. His legs shivered as he stood up. He had pathological curves in his bones. He has rachitic rosary and pearls, which made Dr. Anju more worried.
What must be the possible diagnosis which made Dr.Anju worried?
The child’s symptoms suggest Rickets, a disease caused by vitamin D deficiency. Pale limbs, protuberant abdomen, and leg tremors are indicative of this condition. Pathological bone curves and rachitic rosary also support the diagnosis.
The child’s overall presentation is consistent with Rickets. Vitamin D deficiency is likely due to inadequate diet or lack of sunlight exposure. Dr. Anju’s concern is justified due to potential long-term skeletal deformities.
Treatment with vitamin D supplements and dietary changes is necessary.
Rickets? What are his Vit D and Calcium levels?
Not in this case, but remember, one type of rickets is peculiarly X dominant. That is,
X-linked dominant vitamin D-resistant rickets is also known as X-linked hypophosphatemia (XLH).
There are just a few genetic disorders that are X dominant, as we know.
I think the possible diagnosis is Rickets and the pathologic bone curve is Rachitic rosary which highly support the diagnosis.
Rickets