PMC6046164_01
Patient at admission (a and b) and six months after adequate replacement with levothyroxine sodium tablets (c and d). (a) Irritability and severe abdominal distension. (b) Rarefied hair and eyebrows, and macroglossia. (c) Recovered clinical aspect and no abdominal distension. (d) Sitting without support.
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Along with chronic constipation and abdominal distension, he also presented with failure to thrive, severe developmental delay, bradycardia, rarefied hair and eyebrows, hoarse cry, and macroglossia (Figures 1(a) and 1(b)). After six months of adequate LT4 therapy, laxative therapy was discontinued, and he recovered clinical aspect, with no abdominal distension (Figures 1(c) and 1(d)), showing a rapid catchup in both weight and growth velocity (Figures 2(a) and 2(b)).
Weight-for-age (a) and length/height-for-age (b) growth reference charts, according to the World Health Organization (WHO 2006), showing a rapid catchup after levothyroxine sodium replacement therapy. LT4: levothyroxine sodium.
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All growth standards are according to 2006 World Health Organization (WHO): weight 5.07 kg (<3rd percentile) and height 63.5 cm (<3rd percentile) (Figures 2(a) and 2(b)). After six months of adequate LT4 therapy, laxative therapy was discontinued, and he recovered clinical aspect, with no abdominal distension (Figures 1(c) and 1(d)), showing a rapid catchup in both weight and growth velocity (Figures 2(a) and 2(b)). Weight was 16.4 kg (15-50th percentile) and height was 110.7 cm (50th percentile) (Figures 2(a) and 2(b)).
Anorectal manometry (ARM, balloon method) before treatment (a) and six months after adequate treatment with levothyroxine sodium (LT4) (b). ARM was used to measure contractility in the anus and rectum. This technique used a balloon to distend the rectum and a pressure sensor at the internal anal sphincter to measure the presence or absence of the rectosphincteric reflex. (a) ARM showed great variation in the internal anal sphincter resting pressure (in mmHg). Red circles represent transient internal anal sphincter relaxations that occurred independent of the balloon distension pressure (rectal stimulus). This ARM was considered to be inconclusive. (b) ARM six months after replacement therapy with LT4. The internal anal sphincter resting pressure was normal, without variations. There was no decrease on internal anal sphincter resting pressure without rectal stimulus. Rectoanal inhibitory reflex was present with 15, 20, 25, and 30 mL of air insufflated in the rectal balloon. This ARM was considered to be normal.
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Nonetheless, there were many transitory relaxations in the resting pressure simulating rectoanal inhibitory reflex without rectal stimulus, which ended up as an inconclusive test (Figure 3(a)). ARM was repeated and considered completely normal (Figure 3(b)).
Intestinal transit before levothyroxine sodium replacement therapy, showing a massively dilated stool-filled colon. (a) At 9 hours, an abrupt change between the terminal ileum and cecum occurred, which showed a marked distention, reaching a diameter of 12.5 cm. A massive dilatation of the colon. (b) At 24 hours, contrast persists from cecum to splenic flexure in a dilated colon. (c) After six days, contrast finally reaches sigmoid and rectum, only after a colonic cleansing.
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Contrast took nine hours to travel from the stomach to the cecum, which presented a marked distention that reached a diameter of 12.5 cm (Figure 4(a)), along with a dilatation of the whole colon (Figure 4(b)). Contrast only reached sigmoid colon and rectum after six days through a colonic cleansing (Figure 4(c)).