Fulminant autoimmune hepatitis in a girl with 22q13 deletion syndrome: A previously unreported association

Tufano, Maria Antonietta; Corte, C. Della; Cirillo, Francesco; Vicinanza, Alfredo; Salzano, Andrea; Candusso, M.; Torre, Giuliano; Iorio, Raffaele

doi:10.1016/j.dld.2008.07.288

Cited by 9 publications

(17 citation statements)

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“…In contrast to the previously reported patient with 22q13.3 deletion syndrome associated with severe liver disease [Tufano et al, 2009], the patient in this study did not provide evidence for autoimmune hepatitis (AIH). The reported acute liver failure (ALF) followed by an emergency split liver transplantation was most likely due to idiopathic hepatitis as found in around 50% of pediatric patients with ALF [Lee et al, 2005].…”

contrasting

confidence: 53%

Corrigendum: Fulminant Hepatic Failure Requiring Liver Transplantation in 22q13.3 Deletion Syndrome

Bartsch¹,

Schneider²,

Damatova³

et al. 2011

American J of Med Genetics Pt A

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contrasting

confidence: 53%

Corrigendum: Fulminant Hepatic Failure Requiring Liver Transplantation in 22q13.3 Deletion Syndrome

Bartsch¹,

Schneider²,

Damatova³

et al. 2011

American J of Med Genetics Pt A

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“…The vomiting episodes tend to recur every few months and may be accom- panied by headaches, lethargy, and dehydration [Phelan et al, 2010]. Two recently described cases have presented with sudden and severe autoimmune liver failure requiring transplant [Tufano et al, 2009;Bartsch et al, 2010]. Bartsch et al [2010] suggested that liver function tests should be part of the management of patients with 22q13.3 deletion syndrome.…”

Section: Clinical Featuresmentioning

confidence: 99%

“…The first case was a 7-year-old female with a 1.5-Mb deletion of 22q13 who required a liver transplant to treat her disease [Tufano et al, 2009]. The second case was a 3-year-old female with a 5.7-Mb deletion of 22q13 who developed hyperacute autoimmune hepatitis triggered by a viral infection [Bartsch et al, 2010].…”

mentioning

confidence: 99%

The 22q13.3 Deletion Syndrome (Phelan-McDermid Syndrome)

Phelan

McDermid²

2011

Mol Syndromol

394

320

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The 22q13.3 deletion syndrome, also known as Phelan-McDermid syndrome, is a contiguous gene disorder resulting from deletion of the distal long arm of chromosome 22. In addition to normal growth and a constellation of minor dysmorphic features, this syndrome is characterized by neurological deficits which include global developmental delay, moderate to severe intellectual impairment, absent or severely delayed speech, and neonatal hypotonia. In addition, more than 50% of patients show autism or autistic-like behavior, and therefore it can be classified as a syndromic form of autism spectrum disorders (ASD). The differential diagnosis includes Angelman syndrome, velocardiofacial syndrome, fragile X syndrome, and FG syndrome. Over 600 cases of 22q13.3 deletion syndrome have been documented. Most are terminal deletions of ∼100 kb to >9 Mb, resulting from simple deletions, ring chromosomes, and unbalanced translocations. Almost all of these deletions include the gene SHANK3 which encodes a scaffold protein in the postsynaptic densities of excitatory synapses, connecting membrane-bound receptors to the actin cytoskeleton. Two mouse knockout models and cell culture experiments show that SHANK3 is involved in the structure and function of synapses and support the hypothesis that the majority of 22q13.3 deletion syndrome neurological defects are due to haploinsufficiency of SHANK3, although other genes in the region may also play a role in the syndrome. The molecular connection to ASD suggests that potential future treatments may involve modulation of metabotropic glutamate receptors.

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“…In comparison to adult patients, children with AIH-2 may be associated with rare extrahepatic autoimmune disorders, including autoimmune polyendocrinopathycandidiasis-ectodermal dystrophy (APECED) [83] , vitiligo-nail dystrophy-alopecia [41] , 22q13 deletion syndrome [116] and infantile autoimmune haemolytic anaemia with giant cell hepatitis. Also known as autoimmune polyendocrinopathy syndrome-type 1, APECED is an autosomal recessive genetic disorder with mutations in the 32 autoimmune regulator gene, in which AIH has been reportedly associated in about 20% of cases, typically in anti-LM-positive children [117] .…”

Section: Comparisons In Children and Adultsmentioning

confidence: 99%

Association of Extrahepatic Manifestations with Autoimmune Hepatitis

Wong

Heneghan²

2015

Dig Dis

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For many patients with autoimmune hepatitis (AIH), the presence of extrahepatic features is well recognised both at the time of presentation and during long-term follow-up. Concomitant ‘autoimmune disorders' have been described in 20-50% of patients with AIH, both in adults and children. Indeed, the presence of these associated phenomena has been incorporated into both the original and revised International AIH group scoring systems as an aid to codifying the diagnosis. In acute index presentations, non-specific joint pains sometimes flitting in nature have been reported in 10-60% of patients, and while joint swelling is uncommon, rheumatoid arthritis and mixed connective tissue disease have been reported in 2-4% of patients with AIH. For a majority of patients, these joint symptoms resolve within days of the introduction of immunosuppressive therapy. Rarer features at index presentation include a maculopapular skin rash and unexplained fever, which are features that tend to resolve quickly with treatment. Interestingly, joint pain and stiffness are also well recognised in the context of steroid withdrawal and cessation in AIH. The occasional co-presentation of AIH with coeliac disease is clinically important (1-6%), since for some patients, there is a risk of immunosuppression malabsorption, thus delaying effective treatment. Similarly, the co-existence of selective IgA deficiency (IgAD) can occur in patients with coeliac disease or in isolation. Selective IgAD as a co-existing extraheaptic feature seems to be more common in paediatric patients with AIH. For these patients, they are at an increased risk of respiratory and sinus infections. Although, typically associated with primary sclerosing cholangitis, the presence of inflammatory bowel disease (IBD; both Crohn's disease and ulcerative colitis) has been described in 2-8% of patients with AIH. Interestingly, for patients with autoimmune sclerosing cholangitis, a distinct pattern of IBD has been recently described. Other conditions have been reported at a lower frequency, including Sjogren's syndrome 1-7%, systemic lupus erythematosus 1-3% and glomerulonephritis 1%. Rarer still and at a frequency of <1% include fibrosing alveolitis, haemolytic anaemia, uveitis, mononeuritis multiplex, polymyositis and multiple sclerosis. In contrast, the reported associations between AIH and thyroiditis 8-23%, diabetes 1-10% and psoriasis 3% are commonly seen and notable in clinical practice.

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Fulminant autoimmune hepatitis in a girl with 22q13 deletion syndrome: A previously unreported association

Cited by 9 publications

References 0 publications

Corrigendum: Fulminant Hepatic Failure Requiring Liver Transplantation in 22q13.3 Deletion Syndrome

Corrigendum: Fulminant Hepatic Failure Requiring Liver Transplantation in 22q13.3 Deletion Syndrome

The 22q13.3 Deletion Syndrome (Phelan-McDermid Syndrome)

Association of Extrahepatic Manifestations with Autoimmune Hepatitis

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