Natural history of three late-diagnosed classic Galactosemia patients.

The authors report the natural history of three patients with late-diagnosed Classic Galactosemia (CG) (at 16, 19 and 28 years). This was due to a combination of factors: absence of neonatal screening, absence of some typical acute neonatal symptoms, and negative galactosemia screening. This report underlines the value of neonatal screening and the importance of further diagnostic testing in case of late-onset manifestations.

Kala-Azar: A Case Report.

Leishmaniasis is a zoonosis caused by unicellular protozoans Leishmania. The transmission can be zoonotic or anthroponotic, depending on the species, and the main vector is the phlebotomine sandfly. The disease is endemic in the tropics of Asia and Africa but is considered rare in Portugal, especially in immunocompetent hosts. Its main clinical syndromes constitute cutaneous leishmaniasis, mucocutaneous disease, and visceral leishmaniasis. The latter is also known as kala-azar and is caused by the infection of the phagocytes of the reticuloendothelial system, causing the typical symptoms: fever, hepatosplenomegaly, and pancytopenia. The clinical manifestations are non-specific, frequently causing a delay in the diagnosis, especially in nonendemic areas and immunocompetent hosts. Early diagnosis and treatment are essential, given the high mortality rate in untreated patients. The diagnosis is based on the direct visualization of the protozoan and molecular methods, such as polymerase chain reaction tests. Amphotericin B is considered the first-line treatment. We present a case of visceral leishmaniasis in an immunocompetent patient with fever, hepatosplenomegaly, and pancytopenia.

Hemophagocytic Lymphohistiocytosis Secondary to Chronic Lymphocytic Leukemia Progression.

Hemophagocytic lymphohistiocytosis (HLH) is an acute, rare systemic hyperinflammatory disorder caused by a dysregulated immune cell function and massive cytokine release, often leading to multiple organ involvement and failure. Fever, hepatosplenomegaly, cytopenia, elevated liver enzymes, hypertriglyceridemia, and hyperferritinemia are the hallmarks of the disease. Its primary (genetic) form is typically observed in pediatric patients and its secondary, acquired form is seen in adult patients with an underlying autoimmune, malignant, or infectious disease. It is not frequently reported in patients with chronic lymphocytic leukemia (CLL) without an infectious or pharmacological trigger. We present a case of a 71-year-old patient with hemophagocytic lymphohistiocytosis due to the progression of chronic lymphocytic leukemia.

Neurosyphilis: The Great Imitator.

Syphilis is a sexually transmitted disease caused by spirochete Treponema pallidum, with a growing incidence documented in recent years. Its clinical course is divided into three phases - primary, secondary, and tertiary syphilis - and virtually any organ can be affected, resulting in diverse clinical manifestations, making the diagnosis challenging. Neurosyphilis is a progressive, destructive disease of the central nervous system (CNS) that can develop at any stage of the infection, leading to meningeal involvement, meningovascular disease, or parenchymal syphilis (including tabes dorsalis and general paresis). Its clinical manifestations are heterogeneous and vary from focal neurologic signs to neuropsychiatric manifestations. The diagnosis is based mainly on the clinical picture and study of cerebrospinal fluid. Neuroimaging is helpful and sometimes essential, with magnetic resonance imaging being the most sensitive radiologic method, although there are no pathognomonic radiologic signs. Treatment of all forms of neurosyphilis is based on parenteral penicillin. We present a case of neurosyphilis in a patient presenting with a subacute confusional state and initial imaging findings suggestive of metastatic CNS lesions.

Progressive Multifocal Leukoencephalopathy in a Chemotherapy-Naive Patient With Chronic Lymphocytic Leukemia: A Case Report.

Progressive multifocal leukoencephalopathy is a rare, progressive demyelinating disease of the central nervous system caused by reactivation and replication of the John Cunningham (JC) virus in cerebral oligodendrocytes. The JC virus is a small ubiquitous polyomavirus that can be detected in up to 50% of the adult population. It affects almost exclusively immunocompromised patients and is generally observed in patients with acquired immunodeficiency syndrome and patients with hematologic malignancies and autoimmune or chronic inflammatory diseases medicated with immunosuppressive and immunomodulatory drugs. However, it is rarely described in patients with hematologic malignancies, not undergoing chemotherapy or immunosuppressive therapy. It has a poor prognosis, and the treatment is based on restoring the immune system, given that no specific antiviral treatment is available. We present a case of a chemotherapy-naive patient with chronic lymphocytic leukemia associated with progressive multifocal leukoencephalopathy.

Therapeutic Options in Refractory Evans Syndrome: A Case Report.

Evans syndrome is a rare autoimmune disease, characterized by at least two immune cytopenias, most frequently anemia and thrombocytopenia and rarely immune neutropenia. It has a variable clinical presentation and is rarely diagnosed in adults. It can be idiopathic or secondary to lymphoproliferative disease, infections, autoimmune diseases, drugs, and immunodeficiencies in about 50% of cases. It is characterized by a chronic, relapsing, potentially fatal course due to its hemorrhagic complications as well as complications associated with the long-term immunosuppressive treatment required to control the disease, such as infectious diseases, and cardiovascular and renal complications. Its prognosis depends on the underlying cause. Because of its rarity, the treatment is empirical, based mostly on case series and recommendations for the treatment of other immune cytopenias. The underlying disease and demographic characteristics also play an important role in choosing the treatment, which should be adapted individually to each patient. We present a case of an elderly patient with idiopathic autoimmune hemolytic anemia and thrombocytopenia, refractory to various treatment options.

[The rupture of the renal graft]. / Rotura del riñon trasplantado.

OBJECTIVES: The renal graft rupture (RGR) was first described in 1968; it is a severe situation, generally appearing in the immediate post-operative period. OBJECTIVES: To retrospectively analyze the incidence of renal graft rupture in the population of patients who underwent kidney transplant in the Renal Transplant Department of the Angerich Hospital. METHODS: 492 kidney transplants were performed from 1-1-1992 to 7-31-2005. 422 (85.7%) cadaver donor transplants and 70 (14.3%) live related donor transplants. RESULTS: 11 renal ruptures were observed, with a clinical picture characterized by sudden pain in the graft area, hypotension, and hematocrit descent. CT scan confirmed the diagnosis. Seven patients underwent transplant nephrectomy (one of them 24 hours after surgical repair), another two were surgically repaired successfully, and for the other two patients a conservative management with watchful waiting also resulted in graft preservation. All cases where cadaver donor drafts. CONCLUSIONS: 1) The renal graft rupture is a rare (2.8% in our series) severe complication characterized by hemodynamic instability, with no diagnostic doubts about its presentation in most cases. We use ultrasound as the diagnostic test. 2) In our series we were able to preserve 40% of the kidneys with low morbidity. 3) This complication appeared in cadaver donor kidneys in all cases (11/386; 2.8%).

Rotura de riñón trasplantado / The rupture of the renal graft

La rotura del injerto renal (RR) descripta por primera vez en 1968, es una situación grave que se produce habitualmente en el postoperatorio inmediato. OBJETIVO: Analizar retrospectivamente la incidencia de rotura renal ( RR) en la población de pacientes transplantados por el Servicio de Transplante Renal del Hospital Argerich. MÉTODOS: Desde el 01-01-92 al 31-07-05 se realizaron 492 transplantes renales. 422 (85,7%) de dador cadavérico y 70 (14,3%), de dador vivo relacionado. RESULTADOS: Se observaron 11 RR, estando el cuadro clínico caracterizado por dolor brusco en el área de injerto, hipotensión, descenso del hematocrito. La ecografía renal fue de utilidad al mostrar un hematoma perirrenal y retroperitoneal. La tomografía computada corroboró estpos hallazgos. Se realizaron 7 nefrectomías, (una a las 24 hs. de una reparación quirúrgica), otros 2 fueron reparados quirúrgicamente en forma exitosa y en los restantes dos pacientes se adoptó una conducta expectante que también resulto en la preservación del injerto. En todos los casos el injerto renal fue proveniente de dador cadavérico. CONCLUSIONES: 1) La rotura del injerto renal es una complicación grave, infrecuente (2 8% de nuestra población), caracterizada por compromiso hemodinámico, no ofreciendo dudas diagnósticas su presentación clínica en la mayoría de los casos. Utilizamos la ecografía como método diagnóstico complementario . 2) en nuestra casuística hemos logrado conservar el 40 % de los riñones con una baja morbilidad. 3) En todos los casos, esta complicación se presentó en pacientes que recibieron riñones provenientes de dadores cadavéricos (11/386; 2.8%)

OBJECTIVES: The renal graft rupture (RGR) was first described in 1968; it is a severe situation, generally appearing in the immediate post-operative period. OBJECTIVES: To retrospectively analyze the incidence of renal graft rupture in the population of patients who underwent kidney transplant in the Renal Transplant Department of the Angerich Hospital. METHODS: 492 kidney transplants were performed from 1-1-1992 to 7-31-2005. 422 (85.7%) cadaver donor transplants and 70 (14.3%) live related donor transplants. RESULTS: 11 renal ruptures were observed, with a clinical picture characterized by sudden pain in the graft area, hypotension, and hematocrit descent. CT scan confirmed the diagnosis. Seven patients underwent transplant nephrectomy (one of them 24 hours after surgical repair), another two were surgically repaired successfully, and for the other two patients a conservative management with watchful waiting also resulted in graft preservation. All cases where cadaver donor drafts. CONCLUSIONS: 1) The renal graft rupture is a rare (2.8% in our series) severe complication characterized by hemodynamic instability, with no diagnostic doubts about its presentation in most cases. We use ultrasound as the diagnostic test. 2) In our series we were able to preserve 40% of the kidneys with low morbidity. 3) This complication appeared in cadaver donor kidneys in all cases (11/386; 2.8%)