RESUMEN
Alpha-gal allergy is a reaction where the immunoglobulin E antibody elicits a response to galactosealpha-1,3-galactose (alpha-gal) which is a mammalian oligosaccharide epitope found in nonprimate mammalian. After being exposed to a tick bite, particularly the Lone Star tick (Amblyomma americanum), an individual has been known to develop an alpha-gal allergy. Our patient presented with symptoms of delayed-onset allergy 3-8 hours after consuming mammalian meat products including beef and pork. These symptoms can include, but not limited to, the following: urticaria, angioedema, anaphylaxis, nausea, diarrhea, indigestion. Since symptoms do not present immediately, a delay in diagnosis can occur. Our patient highlights one of the few reported childhood cases with an alpha-gal allergy. We recommend a careful history, in particular, asking if the patient has a past history of tick bites and the appearance of allergy symptoms following beef or pork consumption. Keywords: allergy; food hypersensitivity; immunoglobulin E; meat products; tick bites.
Asunto(s)
Hipersensibilidad a los Alimentos/diagnóstico , Inmunoglobulina E/inmunología , Mordeduras de Garrapatas/complicaciones , Niño , Hipersensibilidad a los Alimentos/inmunología , Humanos , Masculino , Mordeduras de Garrapatas/inmunología , Factores de TiempoRESUMEN
Pelizaeus Merzbacher Disease is a rare X-linked central nervous system disease involving the proteolipid protein 1 gene. Patients exhibit signs for instance nystagmus, hypotonia, ataxia. We report a three-year-old female patient with chief compliant of developmental delay. On physical examination, patient was alert but had poor eye contact while sitting in a stroller. Since no chromosomal evaluation was performed, a chromosomal microarray testing was performed. Review of geneticist report indicated that patient carries a deletion of at least 2.26 Mb within cytogenetic band Xq22.1 to Xq22.2 which is known to contain 39 genes. Out of the 39 genes, proteolipid protein 1 is associated with known clinical disorder; Pelizaeus Merzbacher Disease. Our case highlights the second only known female with Pelizaeus Merzbacher Disease due to deletions of proteolipid protein 1 gene. For a patient with developmental delay, the importance of performing genetic testing and/or radiological imaging early on is strongly recommended. Keywords: deletion; female; Genetic testing; Pelizaeus Merzbacher Disease; Proteolipid Protein 1.
Asunto(s)
Proteína Proteolipídica de la Mielina/genética , Enfermedad de Pelizaeus-Merzbacher/genética , Preescolar , Discapacidades del Desarrollo/etiología , Femenino , Pruebas Genéticas , Humanos , Enfermedad de Pelizaeus-Merzbacher/complicaciones , Enfermedad de Pelizaeus-Merzbacher/diagnóstico , Eliminación de SecuenciaRESUMEN
In general, skin squamous cell carcinoma (SCC) presents as papules or plaques with erythematous or pigmented appearance that may ulcerate the skin. Cellulitis caused by metastatic deposit from a known primary skin SCC has been reported once.1 We describe a patient who presented with cellulitis on the face that did not respond well to full course of antibiotics treatment, and turned out to be a newly diagnosed SCC after biopsy. Other differential diagnoses, such as malignancy, should be suspected in all unusual presentations and biopsy should be taken if patients do not show an optimal and desired improvement after receiving a full-course of antibiotic therapy for cellulitis.