Kevy et al. (1968) described a sibship, with consanguineous parents, in which 1 of 2 boys and 2 of 3 girls had splenic hypoplasia. One of the children died at 10 months of overwhelming haemophilus influenzae sepsis. The other 2 had repeated episodes of pneumococcal meningitis and H. influenzae sepsis. Absence of the spleen was demonstrated by radioactive scanning after injection of Au(198) colloid and chromium-tagged, heated red cells, by the presence of Howell-Jolly bodies and Heinz bodies in the peripheral blood, and by failure to synthesize antibody to sheep red blood cells injected intravenously. The situation is comparable to that in infants in whom the spleen is removed in early life.
Among 60 children with asplenia or polysplenia studied in Toronto, Rose et al. (1975) found 2 families in which 2 sibs had isolated asplenia and 1 family in which 2 sibs had polysplenia.
Gates and Black (1986) reported a family ascertained through 2 children, a 5.5-month-old girl and a 3.5-year-old boy, who died from fulminant pneumococcal sepsis. Neither child had Howell-Jolly bodies on peripheral blood smear. Autopsy on each child revealed marked hyposplenia and no other anatomic abnormalities. The mother was demonstrated to have splenic hypoplasia by ultrasound. A male infant delivered at 6 weeks' gestation was found on isotope studies to have no splenic activities although ultrasound showed a splenic mass.
Dyke et al. (1991), Gill and Kara (1991), and Moore (1991) discussed septicemia and adrenal hemorrhage in congenital asplenia.
Gillis et al. (1992) described a boy and a girl, offspring of nonconsanguineous white Australian parents, with fulminant infections early in life. Blood films from both children showed numerous erythrocytes containing Howell-Jolly bodies. Gillis et al. (1992) presented this as an instance of recessively inherited congenital asplenia with normal heart.
Ferlicot et al. (1997) reported a French family in which a previously healthy 22-month-old boy was hospitalized after he sustained a fall followed by vomiting. Examination revealed a conscious child with no neurologic deficits, but he had fever of 40 degrees centigrade. He continued to be febrile and died 7 hours after admission following an episode of cardiorespiratory distress requiring intubation. Postmortem bacteriologic analysis revealed Streptococcus pneumoniae in his cerebrospinal fluid and blood, and autopsy showed a normally situated but very small spleen containing a large fibrous nodule surrounded by abundant iron deposits. There was preservation of the remainder of the splenic architecture, which consisted largely of red pulp; on histology, only 3 Malpighian corpuscles could be distinguished. Ferlicot et al. (1997) concluded that this degree of splenic hypoplasia represented functional congenital asplenia. Ultrasonographic examination of the patient's parents and twin sister revealed no splenic anomalies.
Gilbert et al. (2002) reported an 11-month-old girl with isolated congenital asplenia who developed recurrent pneumococcal meningitis. The first episode was successfully treated, but the second was fatal. Howell-Jolly bodies were found afterwards on blood smears taken during the first episode of pneumococcal meningitis. Her father had developed pneumococcal meningitis, which improved with parenteral antibiotic treatment. Howell-Jolly bodies were present on blood smears from the father but were ascribed to a spleen injury. The father was shown to be asplenic by ultrasound and abdominal CT after the death of the child. Gilbert et al. (2002) reviewed 31 cases in the literature, of which 13 were sporadic and 18 were familial (from 8 families). Of the 8 families, the pattern of only 1 (Kevy et al., 1968) favored autosomal recessive inheritance. Gilbert et al. (2002) emphasized the importance of checking for Howell-Jolly bodies on blood smears and performing an ultrasound examination to rapidly diagnose congenital asplenia to allow life-saving antibiotic prophylaxis and pneumococcal vaccination.
Mahlaoui et al. (2011) reported the retrospective identification of 20 patients from 10 unrelated French families with isolated congenital asplenia or hyposplenia, 2 of which had been previously described (family B, Ferlicot et al., 1997; family C, Gilbert et al., 2002). None of the families was consanguineous. The median age at diagnosis was 11 months, and most symptomatic patients presented by 12 months of age with an invasive bacterial infection, most commonly Streptococcus pneumoniae. All 13 patients tested had Howell-Jolly bodies on peripheral blood smear, and 4 patients had thrombocytosis. Other immunologic studies were normal, and patients developed antibody responses. Nine (45%) of 20 patients died of overwhelming sepsis at a median age of 12 months. There appeared to be a decreasing incidence of severe infections with age.
Koss et al. (2012) reported detailed features of a family of African descent with congenital asplenia (family E in Mahlaoui et al., 2011). In this family, 3 children died of fulminant infection within the first year of life; they were not further studied. A fourth child died of sepsis at age 23 months. Postmortem examination of this child showed asplenia with normal heart and visceral placement. The fifth child and the father were found to have ICAS; the child was placed on prophylaxis, whereas the father did not have a history of infections, suggesting incomplete penetrance.
Transcript of Congenital Asplenia
Let's Get into the details of: Congenital asplenia is a disease that is a result of being born without a spleen. However, the symptoms that result from this disease can also occur in someone who has had a spleenectomy or trauma in the abdominal region(acquired), or functional, as related to to sickle cell anemia.
This disease can be genetic or sporadic. The specific gene was discovered in 2012 and is called Nkx2.5, which regulates the development of the spleen in early embryogenesis of mice. The mode of inheritance is usually autosomal dominant.
It results from an interference in the right-left symmetry during embryogenesis.
This disease tends to be documented in multiple members of the same family.
The result of not having a spleen is being at risk of bacteremia, especially from encapsulated bacteria S. pneumoniae or H. influenzae
Congenital asplenia can also result in congenital cardiac anomalies, due to the spleen's role in filtering blood. Tests What is it? Serum Agglutination Tests:
CASE STUDY Main Case Study The Vanderveer's: a synopsis History-Other studies Congenital Asplenia Tests used in study Normals The Spleen The Phyisology The spleen was once thought to be a nonvital organ. However, It is now recognized as an important secondary lymphoid organ. It contains germinal centers, which is important in the proliferation of B-lymphocytes. It also is important in producing IgM and complement. It has a role in the phagocytosis of senescent RBCs and other blood elements as well as in the reabsorption of iron (splenic macrophages). Treatment Antibiotic prophylaxis: Use of Amoxicillin or erythromycin
Immunization (especially for encapsulated pathogens Hib, pneumococal/meningoc-cal conjugates, etc)
Management of infection
Parent education Clues to congenital asplenia Abnormalities in the peripheral blood smear (identification of HJ bodies-nuclear remnants, in RBCs)
Pit, or autophagic vacuoles (Normal: 3% pocks or pits. Asplenia: 12%)
Possibly an assessment in argyrophilic granules (still being evaluated). Mr. and Mrs. Vanderveer (distantly related) had 8 children in total, with 3 being important to this study, Susan, Betsy, and David.
Susan Vanderveer became infected with H. influenzae type B, died on the way to the hospital, and was determined via an autopsy to have no spleen.
Betsy V. came down with a fever at the time of her sister's death. Her white blood count level was 28,500 cells/microliter. She was diagnosed with Hib and was given ampicillin intravenously for 10 days. In later years, she was seen by a pediatrician due to other infections.
David V. was admitted to the hospital at 21 months of age with S. pneumoniae. He responded to antibiotic treatment. At 27 months, he was diagnosed with pneumoccocal meningitis, also with good response to antibiotics. At the time of Susan's death, he had pneumonia. What did they all have in common? All the children had received their immunizations against tetanus, diphtheria, and whopping cough. Serum agglutination tests were done on David, Betsy, and their normal 8 year old sister to test their ability to agglutinate said pathogens. Their agglutination titers were all normal.
All the children and the parents were injected intravenously with radioactive colloidal gold. A scintillation counter was done, and the pattern revealed that Betsy and Dave did not have spleens. An 8 month old female had a 4 hr fever. Upon examination, she had a pulse of 200-210 (mean BP of 59 mmHg). She underwent respiratory distress. Pneumococcal PCR was performed on a blood sample, but the results were negative. Post mortem test revealed congenital asplenia, and further tests on family revealed that the parents were unaffected and two out of three siblings were affected. An 11 month old girl was the second child of unrelated parents. She had a healthy older sister. Her mother's sisters had died in infancy of congenital 'cardiopathy'. Her father had abdominal trauma, and suffered from infections due to splenic injury. Due to her mother's history, in- utero tests were performed and appeared normal. At 6 months, she was admitted with signs of meningitis. She was also positive for S. pneumoniae. She had a good response to antibiotic treatment. However, at 11 months, she was admitted with rhinopharyngitis and fever. She eventually died. Congentital asplenia was only suggested after her death. A 2 1/2 year old girl had a history of streptococcal meningitis at the age of 6 months. She was under severe septic shock and a day of fever. Due to her history, splenic dysfunction was considered to be a factor. ultrasound results revealed that she did not have a spleen as well as other intra-abdominal abnormalities. Her familial history showed a normal spleen in her younger sister and no spleen in her brother (HJB bodies seen in blood smear). Hemagglutination tests: This test is performed by hemagglutinating viruses that directly agglutinate to RBC by binding to receptors on its surface. This test is important in the detection and identification of the virus. Blood pressure/Pulse measurments Congenital asplenia can be diagnosed by simple blood tests due to its close relation to the blood. The main test is the serum agglutination test. Blood count measurements BLOOD COUNT (children): RBCs 4.0-5.5 million [per microliter]; WBCs 5,000-10,000;
WBC differential of key WBCs in this diagnosis: neutrophils (55-70%), band neutrophils (0-3%), lymphocytes (20-40%) BLOOD PRESSURE (ranges with height/gender): Ages 3-5->104-116 (systole), 63-74 (diastole). Ages 6-9->108-121 (systole), 71-81 (diastole). Blood Smears Scintillation *Pneumococcal polymerase chain reaction test Used for the detection of S. pneumoniae Works Cited Ahmed, Syed Ather, Stanley Zengeya, Usha Kini, and Andrew Pollard. "Familial isolated congenital asplenia: case report and literature review." European Journal of Pediatrics 169 (2010): 315–318. Academic search premier. Web. 24 Mar. 2013.
"agglutination test - definition of agglutination test in the Medical dictionary - by the Free Online Medical Dictionary, Thesaurus and Encyclopedia.." Medical Dictionary. N.p., n.d. Web. 24 Mar. 2013. <http://medical-dictionary.thefreedictionary.com/agglutination+test>.
Brigitte, Brigitte, Ce´line Menetrey, Vale´rie Belin, Philippe Brosset , Lionel de Lumley, and Alain Fisher. "Familial isolated congenital asplenia: a rare, frequently hereditary dominant condition, often detected too late as a cause of overwhelming pneumococcal sepsis. Report of a new case and review of 31 others." European Journal of Pediatrics 161 (2002): 369. Print.
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Halbertsma, F. J. J., C. Neeleman, C. M. Weemaes, and M. van Deuren. "The absent and vanishing spleen: Congenital asplenia and hyposplenism—two case reports." Acta Paediatrica 94 (2005): 369-340. Academic search premier. Web. 24 Mar. 2013.
News Medical. "Scientists identify first gene associated with congenital asplenia." THE MEDICAL NEWS | from News-Medical.Net - Latest Medical News and Research from Around the World. N.p., n.d. Web. 24 Mar. 2013. <http://www.news-medical.net/news/20120504/Scientists-identify-first-gene-associated-with-congenital-asplenia.aspx>.
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The ??'s If a patient with a ruptured spleen needed an immunology consulatation, the first step would be to look at his vaccination history and medical history. This would let you know what he could possibly be susceptible to, particularly Hib. You would want to give him immunization against the common types of encapsulated bacteria. Also, you would want to start him on antibiotic prophylactics. The ??'s #2 David and Betsy had normal responses to the typhoid vaccine, but not to the sheep red blood cells. The reason for this response is because the typhoid vaccine was injected into the subcutaneous layer of the skin, not directly into the blood stream. Because the rest of their secondary lymphoid tissues functioned well, they were able to produce antibodies. However, the sheep blood was injected into the blood stream. Because they lacked a spleen, antibodies were not made against it, resulting in no raise in the blood titer (their normal sister had a change in her titer after this immunization). The ??'s #3 The case study reveals that the children received the gene defect as a recessive gene instead of the normal dominant allele that carries this disease. According to Medelian laws, the parents had to be heterozygous for the gene for spleen genesis. Because of this, it should have been that 2 out 8 kids would have asplenia (1/4th chance per pregnancy). The fact that the parents were related made it more likely for the recessive gene to be carried to the offspring.