Pediatric patients with lysosomal acid lipase deficiency / Pacientes pediátricos con deficiencia de lipasa ácida lisosomal

Lysosomal acid lipase (LAL) deficiency is a rare, autosomal recessive disease caused by mutations in the LIPA gene, which produces cholesteryl ester and triglyceride accumulation predominantly in hepatocytes, adrenal glands, and gastrointestinal tract. We describe two new cases occurring in siblings, aged 5 and 7 years, who presented with hepatomegaly, dyslipidemia, and abnormal liver function. Percutaneous liver biopsy revealed portal inflammation, hypertrophic Kupffer cells with a foamy appearance and microvesicular steatosis with fibrosis. Immunostaining for lysosomal markers, cathepsin D and LAMP1 reflected the lysosomal nature of the lipid vacuoles. After enzymatic confirmation, enzyme replacement therapy was initiated for both siblings. Follow-up transaminase levels and lipid profiles showed a notable decrease in AST and ALT and a slight increase in HDL cholesterol. It is crucial to increase awareness of this rare condition among clinicians and pathologists. The expression of lysosomal markers around the lipid vacuoles might help diagnose LAL deficiency in pediatric patients.(AU)

La deficiencia de lipasa ácida lisosomal (LAL) es una enfermedad autosómica recesiva inusual, causada por mutaciones en el gen LIPA, que genera acumulación de éster de colesterol y triglicéridos predominantemente en hepatocitos, glándulas suprarrenales y tracto gastrointestinal. Describimos 2 casos adicionales que ocurrieron en 2 hermanos, de 5 y 7 años, que presentaron hepatomegalia, dislipidemia y función hepática anormal. La biopsia hepática percutánea reveló inflamación portal leve, células de Kupffer hipertróficas, con un aspecto espumoso y esteatosis microvesicular difusa con fibrosis. La inmunotinción de marcadores lisosomales, catepsina D y LAMP1, reflejó la naturaleza lisosomal de las vacuolas lipídicas. Después de la confirmación enzimática, ambos hermanos iniciaron terapia de reemplazo enzimático. Los niveles de transaminasas y los perfiles lipídicos de seguimiento mostraron una disminución notoria en AST y ALT y un ligero aumento en el colesterol HDL. Es crucial aumentar la conciencia de esta inusual condición entre médicos y patólogos. La expresión de marcadores lisosomales alrededor de las vacuolas lipídicas podría ayudar a diagnosticar la deficiencia de LAL en pacientes pediátricos.(AU)

Pediatric patients with lysosomal acid lipase deficiency.

Lysosomal acid lipase (LAL) deficiency is a rare, autosomal recessive disease caused by mutations in the LIPA gene, which produces cholesteryl ester and triglyceride accumulation predominantly in hepatocytes, adrenal glands, and gastrointestinal tract. We describe two new cases occurring in siblings, aged 5 and 7 years, who presented with hepatomegaly, dyslipidemia, and abnormal liver function. Percutaneous liver biopsy revealed portal inflammation, hypertrophic Kupffer cells with a foamy appearance and microvesicular steatosis with fibrosis. Immunostaining for lysosomal markers, cathepsin D and LAMP1 reflected the lysosomal nature of the lipid vacuoles. After enzymatic confirmation, enzyme replacement therapy was initiated for both siblings. Follow-up transaminase levels and lipid profiles showed a notable decrease in AST and ALT and a slight increase in HDL cholesterol. It is crucial to increase awareness of this rare condition among clinicians and pathologists. The expression of lysosomal markers around the lipid vacuoles might help diagnose LAL deficiency in pediatric patients.

SPECT/CT in Pleuroperitoneal Fistula Associated With Peritoneal Dialysis.

ABSTRACT: Pleuroperitoneal fistula is a rare entity found in approximately 1.6% of patients with peritoneal dialysis. The pathophysiology is unknown, and it is usually associated with increased abdominal pressure. Upon pleural fluid analysis, a transudate with elevated glucose concentration is found, and the patients present with acute dyspnea, cough, and decrease in the ultrafiltration rate. We present the case of an 81-year-old woman with history of peritoneal dialysis presenting with recurrent pleural effusion. A peritoneal scintigraphy with 99m Tc was performed confirming the diagnosis of pleuroperitoneal fistula.

Zuska's breast disease: Breast imaging findings and histopathologic overview.

Zuska's disease describes the clinical condition of recurrent central or periareolar nonpuerperal abscesses associated with lactiferous fistulas. Pathogenesis involves the occlusion of an abnormal duct through an epithelial desquamation process that causes ductal dilatation, stasis of secretions, and periductal inflammation. Patients with Zuska's disease may develop chronic draining sinuses near the areola from lactiferous ducts fistula; therefore, the underlying abnormal duct system must be located and excised for proper treatment. Zuska's disease is often misdiagnosed and mistreated and is associated with significant morbidity, including the recurrence of abscess and cutaneous fistula formation. This case series aimed to help clinicians investigate and manage this disorder. The clinical and imaging findings, histopathologic correlation, and treatment of Zuska's disease are discussed.

Colitis actínica de localización cecal. Serie de casos / Actinic colitis of cecal location. Number of cases

Resumen Por definición, la colitis actínica incluye cambios inflamatorios de la mucosa colorrectal secundarios a radioterapia en cercanía a la región tratada. La localización más frecuente es el recto y la indicación más común de radioterapia corresponde a neoplasias de la región pélvica incluidos el recto, la próstata y el cérvix. Se estima que hasta la mitad de los pacientes que reciben radiación pélvica llega a desarrollar síntomas gastrointestinales asociados. Se presentan dos pacientes con metástasis óseas sacroilíacas y pélvicas secundarias a adenocarcinoma de próstata que recibieron radiación en la región lumbosacra y pélvica, ambos pacientes presentaron episodios de deposiciones con sangre que iniciaron tempranamente posterior a la radioterapia. La colonoscopia mostró eritema y ulceración. En el estudio histopatológico se observó un patrón de colitis isquémica, con núcleo y citomegalia, estroma fibroso con cambios reactivos y abundante infiltrado inflamatorio neutrofílico. Estos hallazgos son característicos de la colitis actínica aguda; sin embargo, la localización cecal no ha sido frecuentemente reportada. Aunque al ser el ciego y el íleon terminal móviles de localización pélvica, se convierten en un factor de riesgo para que estos segmentos anatómicos sean susceptibles al impacto directo de la radioterapia. Esta condición, en la fase aguda, es autolimitada y se suele resolver con medidas de soporte. Es indispensable que el personal involucrado en el manejo de estos pacientes conozca esta entidad y los posibles diagnósticos diferenciales.

Abstract By definition, actinic colitis includes inflammatory changes of the colorectal mucosa secondary to radiation therapy of nearby tissue. The most frequent location is the rectum, and the most common indication for radiation therapy is a pelvic region neoplasm in the rectum, prostate or cervix. It is estimated that up to half of patients receiving pelvic radiation go on to develop associated gastrointestinal symptoms. We present two patients with sacroiliac and pelvic bone metastases secondary to prostate adenocarcinoma who received radiation in the lumbosacral and pelvic region. Both patients developed bloody stools soon after radiation therapy. Colonoscopy showed erythema and ulceration, and histopathology found a pattern of ischemic colitis with nucleus and cytomegalovirus infection, fibrous stroma with reactive changes and abundant inflammatory infiltration of neutrophils. These findings are characteristic of acute actinic colitis, but the cecal location has not been reported frequently. Nevertheless, the pelvic location of the cecum and the terminal ileum puts these anatomical segments at risk from the direct impact of radiation therapy. In the acute phase, this condition, is self-limiting and usually resolves with support measures. It is essential that the personnel involved in the management of these patients be aware of this entity and its possible differential diagnoses.