RESUMEN
Fetal Wilms tumor (WT) is extremely rare, but with advances in fetal imaging, more cases are being reported. The management of these cases remains challenging. Herein, we present the case of a full-term female infant diagnosed antenatally at 32 weeks of gestation with a right solid renal mass detected on routine prenatal ultrasound without polyhydramnios. At birth, the infant was healthy, with no evidence of dysmorphic features or abnormal laboratory tests to suggest a predisposition syndrome. Her family history was also unremarkable. A successful radical right nephrectomy was performed on day 2 of life revealing a classic WT. She received vincristine as adjuvant chemotherapy without any complications. At the age of 1 month, the infant developed isolated lateralized overgrowth of the right lower limb suspicious of Beckwith-Wiedemann syndrome. At the latest follow-up of 4 years, the child is healthy and disease-free with conserved asymmetry of lower limbs. The case provides insights into the challenging diagnosis and treatment of fetal WT. A review of the literature suggests that the presence of polyhydramnios is a worse prognostic factor while the combination of best supportive care and surgery remains the best management. Fetal WT can be associated with predisposition syndromes; however, their first manifestations can develop after the diagnosis of cancer has been made, as in our patient. We propose starting active surveillance programs and genetic testing for any case of fetal WT.
RESUMEN
The correlation between Down syndrome and Dandy-Walker syndrome is an exceptionally uncommon occurrence. To date, only four cases have been documented. All previously reported cases involved individuals under the age of 37 months, with prenatal or birth diagnoses. Additionally, most of these cases displayed a limited life expectancy and experienced poor developmental outcomes. In this report, we present the first-ever instance of an 11-year-old male patient, previously undiagnosed with Dandy-Walker syndrome, who presented with acute intracranial hypertension. Magnetic Resonance Imaging revealed an active hydrocephalus caused by a Dandy-Walker malformation. The patient's condition was effectively managed through the implementation of a ventriculo-cysto-peritoneal shunt. This case highlights the coexistence of Dandy-Walker syndrome and Down syndrome in an asymptomatic young patient. Furthermore, it demonstrates that active hydrocephalus in such cases can be successfully addressed through either endoscopic third ventriculostomy or ventriculo-cysto-peritoneal shunt procedures.
RESUMEN
BACKGROUND Self-healing juvenile cutaneous mucinosis (SHJCM) is a rarely diagnosed disease worldwide, with less than 20 reported cases in the literature. It is characterized by a rather benign course in juvenile patients with nodular and mucinous skin eruption and edema. CASE REPORT A 12-year-old male patient previously healthy presented to the pediatrics clinic with a 1-week history of bilateral palmer pruritus and plantar tenderness upon walking, preceded by eruption of erythematous patch on his neck. The disease course evolved to include facial edema, erythema, nodular skin eruptions with a completely negative initial workup. The patient was labelled as a juvenile idiopathic arthritis patient and doomed to be a candidate for corticosteroid therapy. Upon further workup, a skin biopsy was taken and SHJCM was diagnosed. Complete resolution of symptoms was witnessed on symptomatic treatment after 5 months of diagnosis. CONCLUSIONS To our knowledge, this is the second case of SHJCM reported in the Middle East and the first to be reported in Lebanon. It is also the first case reported to have the longest follow-up period; 10 years of follow-up with no new findings or relapse. SHJCM is a rare disease whereby awareness of its features and presentation may help in diagnosing it and preventing unnecessary testing and aggressive treatment for a rather benign disease.