Clinical Insights Into Waardenburg-Shah Syndrome: A Case Series and Literature Review.

Researching Waardenburg syndrome (WS) underscores its rarity and complex symptomatology, presenting as a congenital disorder predominantly inherited in an autosomal dominant pattern. It exhibits incomplete penetrance, which results in a wide range of clinical manifestations, with variable phenotypic presentations within the same family as well. The most commonly found features are facial abnormalities, hypopigmentation of the skin, heterochromia iridis, and conductive deafness. Adding to the eccentricities of this syndrome are its four subtypes, each presenting with its specific clinical features, which helps in delineating the subtype. A mutated paired box 3 (PAX3​​​​​) gene manifests as type 1 Waardenburg, which is characterized by sideways displacement of the inner angles of the eyes (i.e., dystopia canthorum), widely spaced eyes, congenital sensorineural hearing impairment, and patchy pigmentation of the iris, skin, and hair. Due to insufficient research, it has been difficult to isolate all the genetic mutations responsible for type 2, but its phenotype is very similar to type 1 with minor differences. Type 3 is characterized by musculoskeletal abnormalities. Waardenburg-Shah syndrome (type 4), which is associated with Hirschsprung disease, is the rarest subtype and is caused by genetic mutations in the endothelin receptor type B (EDNRB), endothelin-3 (EDN3), or sex-determining region Y (SRY) box 10 (SOX10) gene. We present a case series of this unique subtype that presented with a typical history of constipation due to Hirschsprung disease and had phenotypic manifestations of white forelock, heterochromia iridis, and bilateral sensorineural hearing loss (SNHL). In parallel with a positive 1° family history of a white forelock, we reflect on the fundamentals of this unique syndrome, as well as its management protocols, highlighting the importance of genetic counseling and cultivation of a high index of suspicion for its diagnosis.

A Rare Case of Rhabdosarcoma on the Upper Pole of the Kidney.

Rhabdomyosarcoma arising from the upper pole of the kidney is an exceedingly rare occurrence, with only a few documented cases reported in the literature. Here, we present a case of a one-year-old Indian male child diagnosed with rhabdomyosarcoma localized to the upper pole of the kidney. The patient presented with abdominal distension persisting for three days, and imaging studies revealed a mass consistent with renal sarcoma. Surgical excision was performed, followed by histopathological examination confirming the diagnosis of rhabdomyosarcoma. Despite aggressive management, the patient's prognosis remains guarded due to the disease's aggressive nature. This case highlights the importance of considering rhabdomyosarcoma in the differential diagnosis of renal masses, particularly in atypical locations. Early diagnosis and a multimodal treatment approach are crucial for optimizing outcomes in such rare cases.