Waardenburg syndrome (WS) type IV is characterized by pigmentary abnormalities, deafness and Hirschsprung's disease. This syndrome can be triggered by dysregulation of the SOX10 gene, which belongs to the SOX (SRY-related high-mobility group-box) family of genes. We discuss the first known case of a SOX10 frameshift mutation variant defined as c.895delC causing WS type IV without Hirschsprung's disease. This female patient of unrelated Kuwaiti parents, who tested negative for cystic fibrosis and Hirschsprung's disease, was born with meconium ileus and malrotation and had multiple surgical complications likely due to chronic intestinal pseudo-obstruction. These complications included small intestinal necrosis requiring resection, development of a spontaneous fistula between the duodenum and jejunum after being left in discontinuity, and short gut syndrome. This case and previously reported cases demonstrate that SOX10 gene sequencing is a consideration in WS patients without aganglionosis but with intestinal dysfunction.

Oculomotor dysfunction identified within the first 10 days of sport-related concussion (SRC) is a risk factor for Persisting Post-Concussion Symptoms (PPCS). Oculomotor rehabilitation is the recommended treatment for oculomotor dysfunction from the subacute period onwards. However, there are delays in initiating rehabilitation due to a limited number of specialized providers and associated healthcare costs. Delays in initiating treatment are associated with worse outcomes. We performed a retrospective, quasi-experimental trial to evaluate whether providing instructions for self-guided oculomotor rehabilitation in adolescents with 3 or more abnormal oculomotor findings after SRC (Experimental Arm, n = 27, mean age = 15.50 ± 1.53 years, 63.0% male, 5.74 ± 2.43 days since injury) reduced the number of persisting impairments at 4 weeks compared to a wait-and-see approach (Standard Care Arm, n = 106, mean age = 14.98 ± 1.87 years, 59.4% male, 5.69 ± 2.78 days since injury). A small difference was seen in the incidence of neck tenderness but there were no differences between groups in symptom severity or number of abnormal oculomotor findings at initial presentation. Overall, 50 out of 106 (47.2%) participants in the Standard Care Arm had PPCS compared to 7 out of 27 (25.9%) in the Experimental Arm, which was significantly different (Chi-squared = 3.966, p = 0.046). This corresponds to an absolute risk reduction of 21.3%. Results from our pilot study suggest these treatment guidelines are feasible to incorporate into a busy outpatient practice in a cost-effective manner. Prospectively designed randomized controlled trials are warranted to validate the effectiveness of this treatment.

Coat's plus syndrome is an extremely rare genetic syndrome that leads to a variety of symptoms. We are reporting a case of Coat's plus syndrome that had persistent GI bleeding and review of current literature. The patient is a female in her 40 s with a history of coat's disease and end stage renal failure on dialysis. The etiology of renal failure was not discovered, and the patient was being worked up for a kidney transplant. The patient required admission after deterioration of nutritional status with a BMI of 14.3. During admission the patient initially had intermittent GI bleeding requiring weekly blood transfusions. On work up of the GI bleed, no etiology was identified either. As a result persistent negative GI bleed work up, we pursued alternative diagnoses. The history of Coat's disease prompted us to work up the patient for Coat's plus syndrome. A genetic test confirmed the presence of CTC-1 gene mutation, which results in Coat's plus syndrome. With no treatment available as of yet, the patient continued to deteriorate into multi-organ failure. We present an example of GI bleeding in Coat's plus syndrome, only identified thru genetic testing, that is very rare and complex in nature. Despite numerous workups, no specific etiology was identified for the GI bleeding. Previous reports have not investigated cause of GI bleeding, since it is extremely rare in the literature. Further investigation is warranted to understand cause and effects of GI bleeding in this rare genetic disease.