Fletcher Factor Deficiency: Report of a New Family

3 cases of Fletcher factor deficiency in a family not related to the 6 families already published (Hathaway et al 1965, Hattersley & Hayse 1970, Abildgaard & Harrison 1974) are studied. In the family described here, 3 of 4 siblings have a Fletcher factor level of less than 1 % and the fourth has a level of 46 %; the Fletcher factor level in the father is 48 % and in the mother 38 %. This suggests an autosomal recessive transmission. Clinically they do not present spontaneous bleedings and only one of the siblings required a unit of blood after an amygdalectomy. It is also of interest to emphasize that 3 of the siblings suffered from congenital multiple arthrogryposis and that 2 of them presented the arthrogryposis together with the Fletcher factor deficiency, a circumstance which could have been favored by the consanguinity of the parents. The fact that the family described here is white and of Mediterranean origin contradicts the idea that there exists a special predisposition among members of the black race for this disease.     

Fletcher Factor Deficiency: Family Study and Detection

Eight of 11 children of a known Fletcherfactor-deficient individual were found tohave normal activated partial thromboplastin times, normal levels of factors VIII,IX, XI, and XII, and a mean Fletcher factorlevel of 53% (range 40%-72%), suggesting a heterozygous state for the genecontrolling Fletcher factor production. Allpartial thromboplastin time reagents containing celite or kaolin were sensitive toFletcher factor deficiency, while one reagent containing ellagic acid did not detect this abnormality. The finding of anabnormal partial thromboplastin time thatis corrected by a 10-min incubation periodis presumptive evidence for Fletcher factordeficiency.

Submitted on July 13, 1973 Revised on October 28, 1973 Accepted on November 5, 1973     

Factor VII Deficiency: A Rare Case Report

Factor VII deficiency is a rare congenital coagulopathy. Prolonged prothrombin time with normal partial thromboplastin time indicates factor VII deficiency. For the definitive diagnosis, the specific factor VII level should be investigated. We report a 20 day old, baby girl, born full-term who was admitted with the diagnosis of sepsis. Hematological tests revealed prolonged prothrombin time and a factor VII level of nine percent. After antibiotic therapy and fresh frozen plasma replacement, her clinical status improved but the prothrombin time continued to be prolonged. On the seventh day of discharge the baby died due to sudden intracranial hemorrhage.     

Congenital Deficiency of Fibrin-stabilizing Factor (Factor XIII): A Report of Four Cases (Two Families) and Family Members

Four patients with congenital deficiency of fibrin-stabilizing factor (factor XIII) from two families have beendescribed. The mother and the sibs inone family and both parents in theother family were found to have varying degrees of factor XIII deficiency.The observations support the hypothesis of autosomal recessive inheritanceof factor XIII deficiency.

Submitted on January 21, 1972 Accepted on February 9, 1972     

Antibody-Mediated Extreme Insulin Resistance: A Report of Three Cases

Background

Type 2 diabetes mellitus is characterized by relative insulin deficiency and insulin resistance. Features suggesting severe insulin resistance include acanthosis nigricans, hyperandrogenism, weight loss, and recurrent hospital admissions for diabetic ketoacidosis. In rare circumstances, hyperglycemia persists despite administration of massive doses of insulin. In these cases, it is important to consider autoimmune etiologies for insulin resistance, such as type B insulin resistance and insulin antibody-mediated extreme insulin resistance, which carry high morbidity and mortality if untreated. Encouragingly, immunomodulatory regimens have recently been published that induce remission at high rates.

The Lesch-Nyhan Syndrome: Report of Three Cases

Summary: Three patients with the Lesch-Nyhan syndrome are described. Two of the patients, who are brothers, presented with characteristic features, including hyperuricaemia, tophi, spasticity, choreoathetosis and self-mutilation. They both had less than 0.1% of normal levels of the purine salvage enzyme, hypoxanthine-guanine phosphoribosyltransferase in their erythrocytes. A third patient demonstrated most of the same symptoms but did not self-mutilate. His erythrocytes were not completely deficient in hypoxanthine-guanine phosphoribosyltransferase but had approximately 1% of normal levels.     

Combined Factor-V and Factor- VIII Deficiency: Report of Four Cases

Three sisters, descendants of a consanguineous marriage, with combined Factor-V and Factor- VIII deficiency, enuresis until early adulthood, and psychopathological manifestations have been reported. The family study, which included three generations, revealed several clinical and laboratory patterns: mild bleeding with normal levels of Factors V and VIII; mild bleeding with mild deficiencies of Factors V and VIII, mild Factor-V and Factor-VIII deficiencies without bleeding; neither bleeding nor blood clotting abnormalities. The mode of inheritance of the combined deficiency of Factors V and VIII seemed to be autosomal with complete expression in the homozygous state and partial or no expression in the heterozygous state. This conclusion is in accordance with previous reports. The association of the blood coagulation defect with psychopathological manifestations and enuresis in the present kindred appeared coincidental.
A fourth woman with similar clotting defects but with normal personality is reported from another family. Her parents were also related.
Infusion of fresh haemophilia A plasma to one of the patients in the first family had no effect on Factor-V and Factor-VIII levels, but physical effort had a remarkable effect, the levels rising after 24 hours from 16 per cent to 41 per cent and from 0.7 per cent to 32 per cent respectively. In the patient from the other family, only the Factor VIII rose after exercise (from 2.3 to 18.8 per cent), but there was a similar delay in the response.
The technical assistance of Mrs. E. Goldberg is gratefully acknowledged. We are also grateful to Dr. J. Caen for plasma from a known case of Factor-VII deficiency.     

Tuberculosis of the Pancreas: Report of Three Cases

Three cases of pancreatic tuberculosis are described. The first patient presented with abdominal pain, weight loss, anorexia., vomiting, hepatomegaly, and mass in the head of the pancreas, on computerized tomographic (CT) scan. The second patient presented with low grade fever, anorexia, and weight loss, and was investigated for gallbladder disease. The third patient presented with obstructive jaundice and mass lesion in the head of the pancreas. Two patients underwent laparotomy for suspected pancreatic tumors. The findings of pancreatic disease was incidental during laparotomy in the second patient. The histopathology revealed caseating granuloma in all of them. The first patient responded well to treatment, and the second patient stopped treatment after 2 months and is well. The third patient is being followed. If malignancy can be ruled out, tuberculosis should be considered in relevant geographic areas, and a tissue diagnosis should be made.     

Combined Deficiency of Factor V and Factor VIII: Report of a Family and Genetic Analysis

S ummary . A family, in which the combined deficiency of factor V and factor VIII is segregating, is described. It is the first family reported which was detected through routine coagulation studies and the first one in which paternal relatives are found to be affected as well as maternal relatives. Over 40 family members have been studied. A review of the genetic hypotheses in the literature is presented. The data from this family and from the previously reported ones are analysed as to the mode of inheritance. An autosomal recessive mode of inheritance with a marked degree of penetrance (27.2–72.8%) and varying expressivity in heterozygotes seems to be the most likely explanation. The aims for further studies are outlined.     

Preexcitation Secondary to Fasciculoventricular Pathways in Children: A Report of Three Cases

Fasciculoventricular Pathways in Children. Introduction: Fasciculoventricular connections are the rarest form of accessory pathways leading to preexcitation. Electrophysiologic characteristics of these pathways include ventricular preexcitation with normal PR and AH intervals and short HV intervals during sinus rhythm. In addition, atrial overdrive pacing prolongs the PR interval without affecting the HV interval or the degree of preexcitation.
Methods and Results: From March 1994 through February 1997, 3 of 59 pediatric patients referred for electrophysiologic study for preexcitation on surface ECGs were found to have iasciculoventricular pathways. Two patients had no inducible supraventricular tachycardia. One patient had successful ablation of both a left lateral pathway and a concealed antentlateral pathway that had facilitated antidromic and orthodromic supraventricuiar tachycardias, respectively.
Conclusion: Children often manifest minimal preexcitation via accessory AV pathways due to rapid AV conduction and/or left lateral pathway location. Fasciculoventricular pathways may masquerade as Wolff-Parkinson-White syndrome. Separation of the two diagnoses depends on the demonstration of specific electrophysiologic criteria.     

Intractable Hemolytic Anemia after Mitral Valve Repair: A Report of Three Cases

Although hemolytic anemia after mitral valve replacement (MVR) is well recognized, hemolytic anemia associated with mitral valve repair is an uncommon condition. Furthermore, persistent and severe hemolytic anemia despite of medical treatment subsequently requiring reoperation is extremely rare. We here report three cases of intractable hemolytic anemia after mitral valve repair leading to MVR. Collision of regurgitant jet into the annuloplasty ring was the speculated mechanism of hemolysis in all cases. After MVR, all of them experienced immediate resolution of the hemolytic anemia.     

Development of Factor V and Thrombin Inhibitors in Children Following Bovine Thrombin Exposure during Cardiac Surgery: A Report of Three Cases

Factor V and thrombin inhibitors may develop following exposure to bovine thrombin preparations. In patient populations where exposure to bovine thrombin is common, such as children undergoing cardiovascular surgery, the development of such inhibitors should be considered in the evaluation of prolonged prothrombin times. We present three cases of children developing factor V and thrombin inhibitors following repeated exposure during cardiac surgical procedures.     

Medical Management of Thyroid Ectopia: Report of Three Cases

Thyroid ectopia (TE) is an embryological aberration of the thyroid gland migration most commonly observed in the lingual region followed by the sublingual, hyoid, and mediastinal regions. TE is often complicated by local compressive symptoms resulting in dysphagia, dysphonia, and dyspnea. Surgical removal of TE is frequently complicated by difficulties in intubation, increased perioperative bleeding, and severe primary hypothyroidism; on the other hand, I131 ablation is limited by high doses needed and the concern for long-term effects especially in children. We report three children with TE who all presented with compressive symptoms and were managed conservatively with levothyroxine resulting in resolution of compressive symptoms and favorable outcomes. Levothyroxine supplementation is effective and has an important role in managing TE, not only in correcting the associated hypothyroidism but also in resolving the associated compressive symptoms by reducing the size of the ectopic thyroid tissue.Conflict of interest:None declared.     

Abdominal Wall Weakness and Lumboabdominal Pain Revealing Neuroborreliosis: A Report of Three Cases

The authors report three cases of thoracic radiculoneuropathy disclosing neuroborreliosis. All three patients had low back and abdominal pain and two had marked abdominal wall paresis. EMG confirmed a motor involvement of the lower thoracic roots and CSF analysis revealed a lymphocytic meningitis in all three cases. Antibodies against Borrelia burgdorferi were present in both the serum and the CSF. A favourable outcome was obtained in all three patients with appropriate antibiotherapy. The differential diagnosis of this misleading presentation is discussed. Received: 29 January 2001 / Accepted: 18 June 2001