PMC6801359_01
Physical examination findings at birth showing completely feminized genitalia in this
patient.
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Physical examination performed on admission showed generalized skin pigmentation, and her external genitalia were normal (Fig. 1).
Chromatogram showing the SAMD9 mutation identified in this patient
(c.G1376A, p.R459Q). The arrowhead shows the mutated nucleotide.
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G1376A p.R459Q (Fig. 2).
Patient's clinical course. This graph shows the body weight (in blue) and nutritional
status (in red) associated with episodes of aspiration pneumonia. Three episodes of
aspiration pneumonia occurred until 4 mo of age. The first episode occurred the day
after oral intake was initiated at 1 mo of age. The other episodes occurred at 3 and 4
mo of age. The etiology of aspiration pneumonia was identified as GER and achalasia at
4 mo of age, after which gastric tube feeding was switched to duodenal tube feeding.
Aspiration pneumonia did not occur after 4 mo of age except an episode when the
duodenal tube was removed. Enteral feeding was completely discontinued because
antibiotic therapy for pneumonia caused severe diarrhea. The patient received
artificial formula for the first time at 7 mo of age owing to lack of breast milk,
which triggered episodes of loose stool and acute adrenal failure, necessitating
complete discontinuation of enteral nutrition.
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She weighed 3.4 kg at 17 mo of age (Fig. 3).
Chest computed tomography (CT) scan performed at 3 mo of age showing multifocal
inflammatory infiltrates and segmental atelectasis.
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Chest computed tomography performed at 3 mo of age revealed multifocal inflammatory infiltrates, which supported the diagnosis of aspiration pneumonia (Fig. 4).
Growth charts of the patient showing significant growth retardation. Height is in red
in the chart on the left, weight in blue in the chart on the left, and head
circumference in red in the chart on the right. Her height was 59.3 cm (-8.8 SD) and
weight was 4.8 kg (-5.2 SD) at 26 mo of age.
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Her height, weight and head circumstance were shown in Fig. 5.