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C Loris Pablo

Publications and source records attributed to C Loris Pablo.

11 recordsLinked to original sources
PubMed1992

[Beckwith-Wiedemann syndrome: study of eleven cases].

In this paper we report a review of the omphalic pathology that was admitted to our hospital from january 1973 through december 1990. Eleven cases of Beckwith-Wiedemann Syndrome were diagnosed during this period of time. Our eleven cases comply with at least three of the four major criteria (omphalocele, macroglossia, gigantism and neonatal hypoglycemia) and several of the minor criteria. The interest of this paper is based on the rareness of this syndrome and its association in two of our cases with Cacchi-Ricci Syndrome. Moreover, one of these cases later presented with a Wilms' tumor. Finally, we emphasize the importance of an early diagnosis of this syndrome in order to avoid the metabolic disturbances (hypoglycemia), to establish prompt treatment of the serious anomalies (omphalocele) and to control and follow these patients since they have increased risk to develop neoplastic disease.

Beckwith-Wiedemann Syndrome↗
PubMed1989

[Eosinophilic cystitis].

We report two cases of eosinophilic cystitis in children of 11 months and 11 and a half year of age respectively. The presenting symptoms were the emision of mucosanguinolent filaments in the urine in one case and with lower urinary tract symptoms and macroscopic hematuria in the other. Physical examination revealed in one of them a round, tough and painful mass in the hypogastric area. In one case we found peripheral blood eosinophilia. They both showed in the Urinalysis albuminuria, pyuria and hematuria, with the presence of eosinophils in one of them. Macroscopic examination presented in the two cases a tumoral, mamelonne mass in the wall of the bladded. The diagnosis was anatomopathologic due to the demonstration of an inflammatory infiltration, primarily of eosinophils. The clinical course was unfavourable in the case an hemicystectomy was practicated and self-limited in the one only symptomatic treatment was used.

Child↗
PubMed1984

[Prune-belly syndrome in a female].

Authors describe a case of newborn whose malformations of genitourinary tract of abdominal muscles deficiency and renal dysplasia make it very compatible with Prune-Belly Syndrome. The case it is exceptionally interesting because it is a female subject; and on the other hand because of its' associated malformations. The so debated pathogenic of the Syndrome is commented.

Abnormalities, Multiple↗
PubMed1983

[Marshall-Smith syndrome. Apropos of a personal case].

The first familial observation of the Marshall-Smith syndrome is showed. The propositi are a male and female relatives with a double consanguinity and whose family comes from a small area with a high rate of inbreeding. According to this hypothesis autosomal recessive inheritance for this syndrome is proposed as very suggestive. These two new cases seem to prove that the mental retardation may not be a typical clinic features and that survival of the cases longer that expected may be considered. One of our patients is a three years old female and the other one is nearly eleven years old male. The syndrome delineation is given by very closely homogeneous patterns. Said patterns also single it out from the Weaver syndrome.

Abnormalities, Multiple↗
PubMed1983

[Chronic renal insufficiency secondary to infectious mononucleosis].

This report describes the first pediatric case of chronic renal failure as a complication of infectious mononucleosis in a 3 1/2 year old girl. The clinical features were marked at onset by proteinuria and later by nephrotic syndrome. The evolution to chronic renal failure took about two years. In the renal biopsy, lesions characteristic of interstitial nephritis were observed, associated with focal and segmental glomeruloesclerosis and deposits of C3 in granular and discontinued form. Renal participation in infectious mononucleosis is not unusual and fundamentally it is manifested by proteinuria and abnormalities of urinary sediment, with interstitial nephritis as a characteristic lesion in the renal biopsy.

Child, Preschool↗
PubMed1983

[Xanthine lithiasis in a case of Lesch-Nyhan syndrome treated with allopurinol].

Classically it is considered that vital prognosis of Lesch-Nyhan syndrome depends on renal affectation secondary to uric nephropathy. A case of Lesch-Nyhan syndrome treated with Allopurinol is described which presented multiple and bilateral renal stones by precipitation of xanthine. Treatment with Allopurinol inhibits the formation of uric acid and qualitatively renal excretion of oxypurines modifies. In special circumstances (disminution of urinary output and pH), they can precipitate and originate a radiotransparent lithiasis with uric lithiasis. Interest of this case, lies in being alert to possible xanthine stone formation in patients with a large excretion of purinics metabolites, who are treated with Allopurinol.

Allopurinol↗
PubMed1978

[Subacute necrotizing encephalomielopathy. Leigh syndrome (author's transl)].

A 6-month-old girl with familiar history of two dead sisters few months old, was admitted to the Hospital with a neurological process. After her admission progressively worsened until her death. The patient had clinical manifestation of proximal tubular acidosis. Levels of lactic and piruvic acid were normal. Necropsic study was compatible with the diagnoses of subacute necrotizing encephalomielopathy of Leigh syndrome.

Acidosis, Renal Tubular↗