Answer 6

What is the possible diagnosis ?

This means ,of course, reaching a diagnosis in a logic way and giving treatment accordingly. Follow the discussion below.

@ Letters from internal medicine residents:

-An Email from Dr.Magdi Nagiub:

"...problem:
a male patient 19 years was quite well till 3 months ago when he started to develop perioral numbness and later on developed carpopedal spasm.

Discussion:
this male patient in the age of puberty presented with manifestations of hypocalcaemia (clinically and laboratory). By labs there is decreasing serum calcium and increasing serum parathormone and this lab suggests secondary hyperparathyroidism (decreased serum calcium by feed back mechanism leads to increased serum parathormone) and the cause may be:
1-nutritional deficiency specially in this age due to increased demand.
2-calium receptor resistance what is called (pseudo-hypopararthyroidism), specially type II due to normal body built.
3-increased calcium loss either (GIT loss) or (renal loss).
So I recommend this patient to increased calcium uptake (diet rich in calcium , sun exposure, oral calcium, vitamin D oral and injection).
-Follow up for serum calcium, magnesium, phosphate, and parathormone.
-Reassurance.
......" Thank you Dr.Magdi .

Always make a logic impression about the patient's condition:

In the case of abnormal body movements it is important to delineate its exact nature, especially if there are witnesses. Also associated symptoms add more evidences to the supposed diagnosis if put in the right context. So in this case after some history polishing and making a coherent story, the patient revealed to have 'carpo-pedal spasms (abnormal movement )' associated with 'paraesthesia and circumoral numbness (associated symptoms)'. Till this point the primary diagnosis is hypocalcaemia. Remember that dyspnea is not against the diagnosis but rather denoting severity because of bronchospasm which is a finding in severe hypocalcaemia. Labs supported this diagnosis.

How to reach a diagnosis in this case?
Hypocalcaemia can result from:

TABLE 266-4   -- CAUSES OF HYPOCALCAEMIA (Cecil 23 ed)

HYPOCALCEMIA RESULTING FROM REDUCED OR ABSENT PTH SECRETION (negated by high levels in the lab results)
Surgical damage or destruction of the parathyroid glands
Infiltrative diseases and deposition of heavy metals
High-dose radiation
Failure of organogenesis: DiGeorge sequence
Idiopathic hypoparathyroidism
Molecular abnormalities in the PTH gene (loss of function mutations)
Molecular abnormalities in the calcium-sensing receptor gene (gain of function mutations)
Autoimmune polyglandular syndrome type 1
Functional defects in PTH secretion
HYPOCALCEMIA RESULTING FROM RESISTANCE TO THE ACTIONS OF PTH (we are left with this group)
Pseudohypoparathyroidism
Hypomagnesemia
HYPOCALCEMIA IN THE SETTING OF NORMAL OR INCREASED SERUM PTH LEVELS AND NORMAL PTH RECEPTOR FUNCTION 
Hypocalcemia induced by hyperphosphatemia
Nutritional vitamin D deficiency
Vitamin D malabsorption
Loss of function mutations in the 1α-hydroxylase enzyme
Hereditary resistance to 1,25(OH)2 vitamin D
Hypocalcemia resulting from accelerated skeletal mineralization
(hungry bones syndrome)
Medical illness (sepsis)
Medications (anticonvulsant therapy which was erroneously given here may induce impaired vit.D metabolism)

N.B. yellow marked text is my comment



Now after revising the case data we realize that we are left with the group of pseudohypoparathyroidism resulting from resistance to the action of parathyroid hormone action and which involves many types with or without specific skeletal manifestations. (you can revise the literature for a complete description of these syndromes).

So according to this diagnosis the patient needs continuous Ca2+ supplementation.

To explain symptom recurrence:
Symptoms recurred when there is an increased needs during peaks of body growth.