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    Infant with failure to thrive and hypotonia

     

    Patient outcome

    The patient in this case exhibited all the major criteria for a diagnosis of Prader-Willi syndrome: FTT with feeding difficulty, developmental delay, dolichocephaly, hypotonia, and hypogonadism. On swallow study, she was found to have feeding difficulties, specifically pharyngoesophageal dysphagia. The Southern blot analysis revealed a single methylated band of maternally derived DNA and the absence of paternally derived material. This restriction pattern was consistent with the diagnosis of PWS.

    Because of the patient’s feeding difficulty, a nasogastric tube (NG) was placed. She was discharged home after 6 days and was referred to an academic center with a PWS clinic. Regular visits to her pediatrician for weight checks were recommended. Outpatient physical and occupational therapy were started with the goal of improving her strength and developmental milestones. Because of her abnormal swallow study, speech therapy was also ordered.

    At her 6-month well-child checkup, the patient weighs 5.5 kg, still less than the 3rd percentile, and tolerates NG feeds well. The mother is going to start solid feeds as tolerated with management from speech therapy. The NG tube will remain in place for supplementation until feeding by mouth is completely tolerated and the infant shows consistent, appropriate weight gain.

    Summary

    Infants who fail to regain their birthweight by 2 weeks of age are concerning. This case underscores the importance of reviewing growth curves at every single clinic visit. When both FTT and hypotonia are present, further investigation is warranted. A careful history, including a detailed evaluation of social factors and feeding habits, a thorough physical examination, a review of the newborn’s state screening results, and additional tests as needed can help differentiate between acquired and congenital disorders.

    Next: Hypothermia and emesis in a newborn

    Because both AS and PWS have unique features that only present later in childhood, clinicians need to be able to recognize nonspecific clues such as FTT, hypotonia, and developmental delay. Early diagnosis allows prompt medical intervention and enables parents to obtain helpful education and support.

     

     

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