CHIEF COMPLAIN:

Toolay Maghfoori is a 7-months old Saudi female known case of SMA who
presented to the ER on February 10th with increased work of breathing ,cough and
fever.

HISTORY OF PRESENT ILLNESS:

She was in her usual state of health until 2 weeks back when she started to have
objective fever, on and off, relieved by antipyretics. Her temperature was 39C
measured axillary. Gradually last week her fever became more frequent; it
reached 41C yesterday and was partially relieved by antipyretics, dropped to
39C. It was associated with cough, intermittent for 4 days. Her cough was dry
then progressed to wet cough. Her breathing started to shorten 2 days back. Then
her mother started using Ventolin but noticed no improvement. There was history
of lethargy, decreased oral intake as well. There was history of choking attacks
during feeding. There was diarrhea as frequent as 4 times per day for the past
two days, moderate in amount and loose in consistency. She did not receive any
antibiotics and is not on any medications. There was positive history of contact
with sick patient. There was generalized weakness.

SYSTEMIC REVIEW:
CVS: There is no chest pain, dyspnea, PND, syncope, cold extremities, ankle
swelling or cyanosis.
Respiratory: There is cough, no sputum, hemoptysis, sore throat or wheezing.
There is dyspnea that was not related to feeding or any specific thing.
GIT: There is no abdominal pain, nausea, vomiting, hematemesis, regurgitation,
dysphagia or any changes in bowel habit.
CNS: There is no headache, numbness, dizziness, or tremor. There is generalized
hypotonia. There’s no facial pain nor visual problems. There are no smell, taste, or
speech abnormalities.
Urinary: There is no loin pain, dysuria, urgency, frequency, weak stream, polyuria,
oliguria or any remarkable urinary abnormalities.
Dermatology: There are no changes in skin or in hair distribution.

Prenatal Hx:
Mother: There is history of GDM, no infections. The mother was on insulin.
Child: SVD, full term baby, otherwise uncomplicated pregnancy.
Postnatal Hx:
The baby cried immediately. The baby got discharged with the mother in good
condition.
BW= 2.8kg

Past Medical Hx:

4 months ago, she had bronchiolitis.
3 months ago, her mother noticed delay in Toolay’s development which then
started to regress.
At the age of 4 months, she was able to hold objects, but now, she can only
recognize her parents and babble. Toolay was suspected to have SMA so they
drew her blood for molecular study and was diagnosed to have SMA two weeks
ago

Allergy: none
Immunizations:
Until the age of 4 months

Nutritional Hx:
Breastfed until 6 months along with formula introduction.
On soft diet and aptamil

Family Hx:
There is history of positive consanguinity (first degree cousins). There is history of
recurrent abortions on the second gestational month. Her sister has cri du chat
syndrome. Her eldest brother is asthmatic.

Social Hx:
The mother is a 38-year-old housewife, and father is a 41-year-old architect.

Summary:
Toolay ia a 7 months old girl K/C of SMA diagnosed two weeks back in KAUH by
molecular studies. She was admitted to the ER with increased work of breathing,
fever and cough. She is hypotonic and is poorly feeding.
ON EXAMINATION:

Vitals:
T = 37.9C HR= 130-145 RR= 50 Oxygen saturation=85
maintaining on NC

Growth parameters:
Weight= 7kg (<5th percentile)
Height= 64 cm (<5th percentile)
Head circumference= 43 cm (between 29th and 50th percentile)

She looks ill and tachypnic. She was not pale, jaundiced or cyanosed. She seemed
to be small in comparison to kids in her age. She was not dysmorphic, moderately
destressed. There were suprasternal and intercostal retractions and usage of
accessory muscles. She was not connected to anything.

CNS examination: hypotonia and hyporeflexia with negative clonus and babiniski
sign.
CVS: unremarkable- normal s1 s2 sounds no added sounds no murmur
Respiratory: BEAE with bilateral coarse crepitations, bronchial breathing,
increased vocal resonance, dull to percussion.
Abdomen: soft lax, no organomegaly
GU: passing urine normally

PROBLEM LIST:
1- Increased work of breathing > decreased oxygen sat
2- Wet cough
3- Fever
4- Hypotonia and hyporeflexia
5- Global developmental delay
HOSPITAL COURSE:
Toolay was firstly admitted to the ER where the following investigations and
management were done, on February 10th -12th, when the clinical finding
previously mentioned were seen: fever, cough, dysnea,..
Invrestigations:
1-CBC : low HCT, MCV and MCH; otherwise normal.

2- Liver function test: low total protein and albumin; otherwise normal.

3- Arterial Blood Gas Analysis was done twice during her stay in the ER and once
during her stay in the ward.
day 1 pH= 7.32 CO2=41 HCO3=23
day 3 pH= 7.3 CO2=30 HCO3=22
day 6 pH= 7.44 CO2=51 HCO3= 22 after c-pap
Pt was still febrile on 6th day on tazocin
 4- Chest X-ray > right lung collapse, hyperinflation with bilateral interstitial
infiltrates and peribronchial cuffing

5- Urea & Electrolytes:

Na= 135 urea= 1.4 creatinine= 10 
K=4.3
Cl= 109 

6-CRP= 20.6
CRP= 6.63

7- VitD = 82 normal
8- respiratory panel:
H. influenza
Rhinovirus

Differential Diagnosis :
- hospital acquired pneumonia
( with: her previous stay in the hospital, her age, blood gas and chest X-ray
findings, fever/ against: - )
- asthma with infection
(with: her age, positive family history, chest hyperinflation/ against: fever,
findings on clinical examination)
-bronchiolitis
( with: fever, dyspnea / against: she had bronchiolitis and got cured 2 weeks ago )
- foreign body aspiration
(with : symptoms she presented with / against: fever, her age)
-GERD
-cystic fibrosis

MANAGEMENT:
- Budesonide 0.5 mg/mL nebs
- IV hydration
- Omeprazole
- Paracetamol
- Sodium Chloride nebulization
- salbutamol nebulizer solution
- First-line treatment: amoxicillin • Alternatives: co-amoxiclav or cefaclor for
typical pneumonia; erythromycin, clarithromycin, or azithromycin

-supplemental oxygen

IMPRESSION: -hospital acquired pneumonia – shes showing gradual

improvement

PLAN:
- follow with neuro and genetics
- wean cpap peep7
- try to reach the full feed
- follow with cultures
-cardiopulmonary monitor
-input output chart