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We present two cases of type II glycogenosis diagnosed at autopsy in two Mexican boys 5 and 6 months of age. The diagnosis was based on characteristic tissue findings secondary to glycogen overload in the heart, skeletal muscle and central and peripheral neurons. Although clinical diagnosis and treatment are feasible, unfortunately this disease is usually identified at autopsy and hence its actual frequency is underestimated in our country. [ABSTRACT FROM AUTHOR]

Introduction: Mucopolisaccharidosis I (MPS I) is caused by deficiency of the enzyme α-L-iduronidasa which results in chronic lisosomal deposit of glicosaaminoglicanos (mucopolisacaridos) with cell, tissues and organic damage. It causes death by respiratory failure in patients between the 10 and 40 years of age. At present, the available enzymatic therapy relieves many of the signs and symptoms of this disease. Case report. A five-year-old girl, diagnosed with Type I mucopolysaccharidosis, confirmed by an a-L-iduronidase of 0.4 umol/L/h. (2.2 to 11.7) At three years of age she had ventilation tubes implanted in both timpanic membranes. Tonsillectomy was performed and ventilation tubes were implanted again at 4 years of age. This same year she was operated for correction of scoliosis. In order to perform a cerebral and cervical spine magnetic nuclear resonance she was anesthesized under oxygen (5 L/min) and 3% sevofluorane. Endotracheal intubation at 6 L/min by mask was carried out; she was given 200 mcg of atropine, 20 mcg of fentanyl, and 50 mg of propofol by vein which caused marked sinus bradycardia followed by cardiac arrest. A spontaneous 110/min heart rate took place whence a second irreversible cardiac arrest occurred. Autopsy showed abundant systemic glicosaaminoglicane deposits. Conclusion: There is great anesthetic risk for the patients with MPSI because of the shortness of their neck, infiltration of soft tissues of the upper airway, macroglosia, adenoamigdaline hypertrophy, and atlanto-occipital instability which make access to the airway route and intubation very difficult. These patients should only be put under general anesthesia in facilities where the anesthesiologists have experience in difficult airway intubation. [ABSTRACT FROM AUTHOR]

Background. Autopsy studies in patients who died with AIDS provide an insight on the occurrence and diversity of tissue changes directly resulting from HIV infection and of the infectious complications, often with opportunistic organisms, associated with the disease. Material and methods. This is a retrospective analysis of 34 autopsies performed in children dying with AIDS at the National Institute of Pediatrics in Mexico City from 1985 to 2004. The cases were classified according to the mechanisms of infection in maternal (prenatal and from breast feeding), transfusion related and from sexual contact. For comparative purposes, the cases were distributed in two decades based on the probable date of infection. Results. Involvement of the lymphoid tissue was the most frequent primary pathology (79%) followed by central nervous system disease in 24 cases (70%). Associated pathology included malnutrition (53%), nephropathy (11.7%), blood vessel involvement (5.8%) and hepatitis (2.9%). Secondary infection was present in every case. Infectious agents included bacteria (55.8%), Cytomegalovirus (44.15%), Pneumocystis (26.4%), Candida (23%), Herpes/Varicella (20%) and Histoplasma (14.7%). Conclusions. A wide variety of tissue changes directly related to HIV infection was found, some of them infrequent complications such as vasculitis. Histoplasmosis was an important cause of death and was not considered as a clinical diagnosis in any of our cases. Mycobacteria, probably non-tuberculous, were found in two patients. Pulmonary Pneumocystis infection is persistently frequent in spite of clinical awareness and prophylactic measures [ABSTRACT FROM AUTHOR]