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History:

A girl with 11 years old was admitted to pulmonology ward with dyspnea, orthopnea, periorbital and extremities edema and hepatomegaly.

During last 3 months she was suffered from dyspnea on exertion, cyanosis during sleep and sometimes edema in extremities.

She was visited by physician several times and admitted and different lab test was performed.

Prior to admission in our hospital she was treated as asthma with bronchodilators, Inhaler corticosteroid (ICS) and prednisolone for 2 months.

Past Medical History:

At birth:   (BW=3.5 kg ,     NVD,   no respiratory distress)

She had signs of weakness from 3 years of age such as weakness in standing from sitting position.

She had dyspnea on exertion from 7 years of age.

Family history:

Her brother has weakness, especially the transition from supine to sitting.  Recently he developed breathlessness and cyanosis during sleep.

History of death in infancy in sibling with respiratory distress.

History of weakness and respiratory problems and death in second degree relatives.

Parents are relative.

Physical Examination:

General appearance: ill, pallor, Respiratory distress

Vital sign:      RR: 35/min,    BP: 95/50 mmHg,    T: 37,    HR: 160/min,        SpO₂ at room air: 82%

 Weight: 33 Kg           

Rapid shallow breathing, Inspiratory fine crackles in base of lungs

Hepatomegaly

Pitting edema in extremity

Weakness ( upper and lower extremity: 3/5), Decreased DTR

Others: Normal

Laboratory tests:

CBC-Diff,  BS,  Na,  K,  BUN,  Cr,  Ca,  Ph,  ALT,  ALK-Ph:  Normal

AST: 50       LDH: 710          CPK: 260        Aldolase: elevate

Thyroid Function Test: Normal

ABG:       (PH: 7.38        P_CO2: 65 mmHg          HCO3:35          P_O2: 55 mmHg ) 

Cardiology consult:  ECG: RVH,   Echocardiography: RVH, Pulmonary Atrial Pressure= 70 mmHg

Disease process:

She was admitted to pulmonology ward: treatment for Pulmonary Atrial Hypertension (PAH) and right heart failure was started.

After 3 days of admission she developed gasping respiration, decreased Sao2 and raised P_CO2

( P_CO2=90mmHg) during sleep and undergone intubation and mechanical ventilation.

6 days after intubation, patient was extubated and undergone non-invasive ventilation (NIV).

8 days after start of NIV, she was discharged with NIV.

Other diagnostic studies were performed.

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