Case Study; Pathophysiology

Case Study; Pathophysiology

There are three likely conditions that the five months old baby could be suffering from; one is cerebral palsy. Children with cerebral palsy often have nutritional problems. Greasy stool can be an indicator of nutritional problems (Adler & Liou, 2016). The foul smelling stool is another manifestation of cerebral palsy; what’s more, the children could be malnourished because they have problems with their fine motor skills which hinder their feeding and swallowing. The patients have mentioned greasy, foul smelling stool, and from the assessment, the child looks small for age. Cerebral palsy is, therefore, a likely diagnosis (Cowley, Kopf, LaRiviere, Ziebis, & Newman, 2015).

Secondly, the baby could be suffering from lactose intolerance. Children with lactose intolerance may have foul smelling and greasy stool. Such infants’ small intestines are unable to break down lactose in dairy products and formula. Lactose intolerant children fail to digest the lactose. Finally, another possible condition that the baby could be suffering from is cystic fibrosis. Cystic fibrosis is a genetic disorder that people are born with. The genetic disorder affects the respiratory and the gastrointestinal system (Cowley, Kopf, LaRiviere, Ziebis, & Newman, 2015).

When babies are affected by this cystic fibrosis they gastrointestinal symptoms could be greasy and foul smelling stool production.  The condition can also manifest in respiratory disorders that arise from the damage caused in the lungs of the baby. What’s more, the affected people experience a failure to thrive despite adequate intake. All these signs noted in the baby; the baby is small for age, the parents are complaining of greasy, foul smelling stool and from the assessment, the child has respiratory problems since they are coughing and wheezing.  This child is most likely suffering from cystic fibrosis because she has most of the symptoms that people with the condition manifest with (Adler & Liou, 2016).

Cystic fibrosis has been noted to present with better symptom when a late diagnosis of the condition made. The people diagnosed below the age of 24 years have worse manifestations unlike the older people diagnosed with the same condition. This state has been attributed to the CF gene CFTR attacking age. Adults have less respiratory symptoms, and some do not have the manifestation in the pancreas.

To get a definitive diagnosis of the condition the sweat test has to be conducted on the baby. Other tests that could be done include history taking from the parents to find out any family history of the condition. A positive family history will identify the condition. The care team could also do some chest radiographs to see the damage caused to the lungs by the disease. Any damages noted in the lungs will help arrive at a definitive diagnosis for the condition that the child is presenting with on admission (Adler & Liou, 2016).

Cystic fibrosis is a condition that occurs most commonly in the Caucasian race or people of European descent. Different studies have revealed that Caucasians stand the highest risk of getting the genetic disease. People from African origin have the lowest probability of getting cystic fibrosis (Poolman & Galvani, 2006). Because of this fact is the child had African descent then the likelihood of his condition being cystic fibrosis would reduce significantly, and other tests would have to be done to reach the most definitive diagnosis.

In summary, the paper has described the differential and definitive diagnosis of cystic fibrosis from a scenario of a baby. The paper has further given the diagnostic tests to confirm the case.


Adler, F. & Liou, T. (2016). The Dynamics of Disease Progression in Cystic Fibrosis. PLOS ONE,11(6), e0156752.

Cowley, E., Kopf, S., LaRiviere, A., Ziebis, W., & Newman, D. (2015). Pediatric Cystic Fibrosis Sputum Can Be Chemically Dynamic, Anoxic, and Extremely Reduced Due to Hydrogen Sulfide Formation. Mbio6(4), e00767-15.

Poolman, E. & Galvani, A. (2006). Evaluating candidate agents of selective pressure for cystic fibrosis.Journal Of The Royal Society Interface4(12), 91-98.