Patients share several clinical features with Nijmegen breakage syndrome and LIG 4 deficiency (see these terms). ... Differential diagnosis Differential diagnoses include Nijmegen breakage syndrome and LIG4 syndrome (see these terms).
Cernunnos deficiency Other names Combined immunodeficiency-microcephaly-growth retardation-sensitivity to ionizing radiation syndrome, Cernunnos XLFD Cernunnos deficiency is inherited via autosomal recession Symptoms Microcephaly [1] Causes NHEJ1 gene mutation [1] Diagnostic method Clinical features [1] Treatment Immunoglobulin replacement, HSCT [1] Cernunnos deficiency is a form of combined immunodeficiency characterized by microcephaly , due to mutations in the NHEJ1 gene, it is inherited via autosomal recessive manner [2] [1] Management for this condition is antiviral prophylaxis and antibiotic treatment [ medical citation needed ] Contents 1 Symptoms and signs 2 Cause 3 Mechanism 4 Diagnosis 4.1 Differencial diagnosis 5 Management 6 See also 7 References 8 Further reading 9 External links Symptoms and signs [ edit ] The sign and symptoms of this condition on an affected individual are as follows: [1] Recurrent infections Microcephaly Growth retardation Bone -malformation Dysmorphic feature Urogenital malformations Cause [ edit ] NHEJ1 In terms of genetics the condition, Cernunnos deficiency is due to a mutation in the NHEJ1 gene, it has a cytogenetic location of 2q35, while its molecular location is 219,075,324 to 219,160,865 [3] [2] Mechanism [ edit ] The pathophysiology of Cernunnos deficiency begins with normal function of Non-homologous end-joining factor 1 gene. ... It might additionally act as a connection between XRCC4 and other NHEJ factors (at DNA ends) [4] [3] [5] When a mutation occurs in NHEJ1, then one sees that nucleotide deletions cause V(D)J recombination , signal joints, to be affected. [6] V(D)J recombination is a genetic recombination that happens in early stages of B and T cell maturation. [7] Diagnosis [ edit ] IgM The diagnosis of Cernunnos deficiency will find the following in an affected individual via clinical features and blood test : [6] [1] B lymphopenia T lymphopenia Hypogammaglobulinemia with low IgA Hypogammaglobulinemia with low IgM Differencial diagnosis [ edit ] The DDx for Cernunnos deficiency are both LIG4 syndrome , as well as Nijmegen breakage syndrome [1] Management [ edit ] In terms of management for Cernunnos deficiency, one finds that treatment with allogeneic hematopoietic stem cell transplantation , which are stem cells that bring about other cells [8] ) has proven useful in some instances.
A number sign (#) is used with this entry because T cell-negative, B cell-negative, natural killer (NK) cell-positive severe combined immunodeficiency (SCID) with microcephaly, growth retardation, and sensitivity to ionizing radiation (IR) is caused by mutation in the NHEJ1 gene (611290). A presumably hypomorphic mutation in the NHEJ1 gene (611290.0005) results in SCID with sensitivity to ionizing radiation, but without microcephaly or growth retardation. For a general phenotypic description and a discussion of genetic heterogeneity of autosomal recessive SCID, see 601457. Clinical Features Buck et al. (2006) reported 5 patients in which SCID was associated with microcephaly and growth retardation. Severe growth retardation and dystrophy were observed in 4 of the 5 patients, and microcephaly was present in all 5 patients at birth.
For example, Brissaud's infantilism, described by Édouard Brissaud in 1907 is now known as myxedema (a form of hypothyroidism ); "intestinal infantilism" of Christian Archibald Herter is called coeliac disease . The Turner syndrome was described as "a syndrome of infantilism" by Henry Turner himself. [2] Terms such as "genital infantilism" (infantilism in development of genitals, hypogenitalism ), or "sexual infantilism" (lack of sexual development after expected puberty or delayed puberty ) may still be seen, and are considered to be synonyms of hypogonadism . ... Similarly to some other medical terms ( cretinism , idiotism ), "infantilism"/"infantile" may be used pejoratively (synonymous to " immature "). [3] References [ edit ] ^ Ronald Grey Gordon (a 1999 reprint) "Personality", Routledge, ISBN 0-415-21057-7 , p.77 ^ Turner HH. (1938). A syndrome of infantilism, congenital webbed neck, and cubitus valgus.
Some of the more frequently seen forms of PID include common variable immunodeficiency , severe combined immunodeficiency , X-linked agammaglobulinemia , Wiskott–Aldrich syndrome , DiGeorge syndrome , ataxia–telangiectasia , [7] Treatment [ edit ] The treatment of primary immunodeficiencies depends foremost on the nature of the abnormality. ... Over the past two decades there were some successful treatments of patients with specific primary immunodeficiencies (PID), including X-linked severe combined immunodeficiency (SCID) , Wiskott–Aldrich syndrome and metabolic conditions such as leukodystrophy . [8] Gene therapy evolved in the 90s from using of gammaretroviral vectors to more specific self-inactivating vector platforms around 2006. [9] The viral vectors randomly insert their sequences into the genomes. ... External links [ edit ] International Union of Immunological societies (IUIS) v t e Lymphoid and complement disorders causing immunodeficiency Primary Antibody / humoral ( B ) Hypogammaglobulinemia X-linked agammaglobulinemia Transient hypogammaglobulinemia of infancy Dysgammaglobulinemia IgA deficiency IgG deficiency IgM deficiency Hyper IgM syndrome ( 1 2 3 4 5 ) Wiskott–Aldrich syndrome Hyper-IgE syndrome Other Common variable immunodeficiency ICF syndrome T cell deficiency ( T ) thymic hypoplasia : hypoparathyroid ( Di George's syndrome ) euparathyroid ( Nezelof syndrome Ataxia–telangiectasia ) peripheral: Purine nucleoside phosphorylase deficiency Hyper IgM syndrome ( 1 ) Severe combined (B+T) x-linked: X-SCID autosomal: Adenosine deaminase deficiency Omenn syndrome ZAP70 deficiency Bare lymphocyte syndrome Acquired HIV/AIDS Leukopenia : Lymphocytopenia Idiopathic CD4+ lymphocytopenia Complement deficiency C1-inhibitor ( Angioedema / Hereditary angioedema ) Complement 2 deficiency / Complement 4 deficiency MBL deficiency Properdin deficiency Complement 3 deficiency Terminal complement pathway deficiency Paroxysmal nocturnal hemoglobinuria Complement receptor deficiency v t e Diseases of monocytes and granulocytes Monocytes and macrophages ↑ -cytosis : Monocytosis Histiocytosis Chronic granulomatous disease ↓ -penia : Monocytopenia Granulocytes ↑ -cytosis : granulocytosis Neutrophilia Eosinophilia / Hypereosinophilic syndrome Basophilia Bandemia ↓ -penia : Granulocytopenia/agranulocytosis ( Neutropenia / Severe congenital neutropenia / Cyclic neutropenia Eosinopenia Basopenia ) Disorder of phagocytosis Chemotaxis and degranulation Leukocyte adhesion deficiency LAD1 LAD2 Chédiak–Higashi syndrome Neutrophil-specific granule deficiency Respiratory burst Chronic granulomatous disease Neutrophil immunodeficiency syndrome Myeloperoxidase deficiency
Adrenocortical carcinoma is remarkable for the many hormonal syndromes that can occur in patients with steroid hormone-producing ("functional") tumors, including Cushing's syndrome , Conn syndrome , virilization , and feminization . ... Most tumors in children are functional, and virilization is by far the most common presenting symptom(s), followed by Cushing's syndrome and precocious puberty . [2] Among adults presenting with hormonal syndromes, Cushing's syndrome alone is most common, followed by mixed Cushing's and virilization ( glucocorticoid and androgen overproduction). Feminization and Conn syndrome ( mineralocorticoid excess) occur in less than 10% of cases. ... Laboratory findings in Cushing syndrome include increased serum glucose (blood sugar) and increased urine cortisol . Adrenal virilism is confirmed by the finding of an excess of serum androstenedione and dehydroepiandrosterone . Findings in Conn syndrome include low serum potassium , low plasma renin activity, and high serum aldosterone.
ADCC occurs with increased frequency in patients with the Beckwith-Wiedemann syndrome (130650) and is a component tumor in Li-Fraumeni syndrome (LFS; 151623).
Girls may also present with cliteromegaly and facial hair, while boys present with phallomegaly and early virilisation. Cushing's syndrome (see this term) occurs in a third of cases with the most common signs being a moon-like facies, centripetal fat distribution and plethora. There is an increased incidence of ACC in patients with isolated hemihypertrophy, Wiedemann-Beckwith syndrome, congenital adrenal hyperplasia (CAH) and Li-Fraumeni syndrome (LFS) (see these terms).
Adrenocortical carcinoma is a rare cancer affecting the outside of the adrenal glands ( adrenal cortex ). These glands are on top of each kidney and are responsible for producing certain hormones and keeping blood pressure at normal levels. Adrenocortical carcinoma is relatively frequent in children compared to many other cancers, although the cancer may also affect adults. Girls are more often affected than boys. Symptoms of adrenocortical carcinoma may include pain in the abdomen, hypertension, weight gain, frequent urination and possibly deepening of the voice. These symptoms are due to the tumors causing excess secretion of hormones from the adrenal glands.
A number sign (#) is used with this entry because of evidence that mitochondrial DNA depletion syndrome-9 (MTDPS9) is caused by homozygous or compound heterozygous mutation in the alpha subunit of the succinate-CoA ligase gene (SUCLG1; 611224) on chromosome 2p11. ... Description Mitochondrial DNA depletion syndrome-9 is a severe autosomal recessive disorder characterized by infantile onset of hypotonia, lactic acidosis, severe psychomotor retardation, progressive neurologic deterioration, and excretion of methylmalonic acid. ... For a discussion of genetic heterogeneity of mtDNA depletion syndromes, see MTDPS1 (603041). Clinical Features Early Descriptions Erickson (1965) reported a mentally retarded brother and sister with familial infantile lactic acidosis. ... Subsequently, they developed a Leigh syndrome-like disorder with hearing impairment and dystonia, and they had a life span of up to 21 years. Ostergaard et al. (2010) reported a Swedish boy with recessive encephalomyopathic mtDNA depletion syndrome and methylmalonic aciduria due to mutation in the SUCLG1 gene (611224.0002).
Fatal infantile lactic acidosis with methylmalonic aciduria is a rare neurometabolic disease characterized by infantile onset of severe encephalomyopathy, lactic acidosis and elevated methylmalonic acid urinary excretion. Clinically it manifests with severe psychomotor delay, hypotonia, failure to thrive, feeding difficulties and dystonia. Epilepsy and multiple congenital anomalies may be associated.
Dysplasias on a mainly macroscopic scale include hip dysplasia , myelodysplastic syndrome , and multicystic dysplastic kidney . ... Contents 1 Mainly microscopic scale 1.1 Epithelial dysplasia 1.2 Myelodysplastic syndrome 1.3 Fibrous dysplasia of bone 2 Mainly macroscopic scale 2.1 Hip dysplasia 2.2 Multicystic dysplastic kidney 3 Etymology 4 See also 5 References 6 Further reading Mainly microscopic scale [ edit ] Epithelial dysplasia [ edit ] Main article: Epithelial dysplasia -plasia and -trophy Anaplasia (structural differentiation loss within a cell or group of cells). ... Dysplasia, in which cell maturation and differentiation are delayed, can be contrasted with metaplasia , in which cells of one mature, differentiated type are replaced by cells of another mature, differentiated type. Myelodysplastic syndrome [ edit ] Main article: Myelodysplastic syndrome Myelodysplastic syndromes ( MDS ) are a group of cancers in which immature blood cells in the bone marrow do not mature and therefore do not become healthy blood cells. [2] Problems with blood cell formation result in some combination of low red blood cells , low platelets , and low white blood cells . [2] Some types have an increase in immature blood cells, called blasts , in the bone marrow or blood . [2] Fibrous dysplasia of bone [ edit ] Main article: Fibrous dysplasia of bone Fibrous dysplasia of bone is a disorder where normal bone and marrow is replaced with fibrous tissue , resulting in formation of bone that is weak and prone to expansion. ... Retrieved 2019-09-09 . ^ a b c "Myelodysplastic Syndromes Treatment (PDQ®)–Patient Version" . ... Fibrous Dysplasia/McCune-Albright Syndrome . Seattle (WA): University of Washington, Seattle.
It has features resembling other complex tics such as echolalia or coprolalia , but, unlike other aphasias , palilalia is based upon contextually correct speech. [2] It was originally described by Alexandre-Achille Souques in a patient with stroke that resulted in left-side hemiplegia, [3] although a condition described as auto- echolalia in 1899 by Édouard Brissaud may have been the same condition. [1] Contents 1 Classification 2 Characteristics 3 Causes 4 Diagnosis 5 References Classification [ edit ] Palilalia is considered an aphasia , a disorder of language, and is not to be confused with speech disorders , as there is no difficulty in the formation of internal speech. [1] Palilalia is similar to speech disorders such as stuttering or cluttering , as it tends to only express itself in spontaneous speech, such as answering basic questions, and not in automatic speech such as reading or singing; however, it distinctively affects words and phrases rather than syllables and sounds. [1] Palilalia may occur in conditions affecting the pre-frontal cortex or basal ganglia regions, either from physical trauma, neurodegenerative disorders , genetic disorders , or a loss of dopamine in these brain regions. [4] Palilalia occurs most commonly in Tourette syndrome and may be present in neurodegenerative disorders like Alzheimer's disease and progressive supranuclear palsy . [4] [5] Characteristics [ edit ] Palilalia is defined as the repetition of the speaker's words or phrases, often for a varying number of repeats. ... PSP showed involuntary movements and repetitions in his signing. [9] Tyrone and Moll reported his movements were palilalic in nature, as entire signs were repeated and the repetitional movements became smaller and smaller in amplitude. [9] Causes [ edit ] Palilalia also occurs in a variety of neurological disorders, occurring most commonly in Tourette syndrome , Alzheimer's disease , and progressive supranuclear palsy . [5] Such degradation can occur in the substantia nigra where decreased dopamine production results in a loss of function. [4] It can also occur in a variety of genetic disorders including Fragile X syndrome , Prader-Willi syndrome , Asperger syndrome and autism . [4] Diagnosis [ edit ] Palilalia must be differentiated from other complex tic disorders (such as echolalia ), stuttering , [10] and logoclonia . ... ISBN 978-0-549-62729-6 . ^ a b c d Van Borsel J, Tetnowski JA (2007). "Fluency disorders in genetic syndromes". J Fluency Disord . 32 (4): 279–96. doi : 10.1016/j.jfludis.2007.07.002 . ... An international handbook , Waltger de Gruyter, Berlin/New York (1993), pp. 225–238 v t e Tourette syndrome Main Causes and origins History Societal and cultural aspects Management Terms Coprolalia Copropraxia Echolalia Echophenomenon Echopraxia Palilalia Palipraxia PANDAS Premonitory urge Sensory phenomena Tic Tic disorder Tourettism People Jean-Martin Charcot Donald J. ... Shapiro Organizations Tourette Association of America Tourette Canada Tourettes Action Yale Child Study Center Media Front of the Class Hichki I Have Tourette's but Tourette's Doesn't Have Me John's Not Mad " Le Petit Tourette " Maze Motherless Brooklyn Quit It The Secret Life of Lele Pons The Tic Code Tic Talk: Living with Tourette Syndrome
It was first described by Columbi in 1559. [3] Contents 1 Signs and symptoms 1.1 Complications 2 Cause 2.1 Syndromes 3 Diagnosis 3.1 Classifications 4 Treatment 5 References 6 External links Signs and symptoms [ edit ] In combination with polydactyly Delta shaped extra phalanx The triphalangeal thumb has a different appearance than normal thumbs. ... In these cases, there is a mutation on chromosome 7q 36. [6] If the TPT is hereditary, it is mostly inherited as an autosomal dominant trait, [7] non-opposable and bilateral. [2] The sporadic cases are mostly opposable and unilateral. [8] Syndromes [ edit ] Triphalangeal thumb can occur in syndromes but it can also be isolated. The triphalangeal thumb can appear in combination with other malformations or syndromes. [5] Syndromes include: Holt-Oram syndrome Aase syndrome Diamond-Blackfan anemia Townes-Brocks syndrome Malformations include: [5] Radial polydactyly Syndactyly Claw-like hand or foot Diagnosis [ edit ] Classifications [ edit ] There are multiple classifications for the triphalangeal thumb.
A number sign (#) is used with this entry because lymphoproliferative syndrome-2 (LPFS2) is caused by homozygous mutation in the CD27 gene (186711) on chromosome 12p13. Description Lymphoproliferative syndrome-2, also known as CD27 deficiency, is an autosomal recessive immunodeficiency disorder associated with persistent symptomatic EBV viremia, hypogammaglobulinemia, and impairment in specific antibody function resulting from impaired T cell-dependent B-cell responses and T-cell dysfunction (summary by van Montfrans et al., 2012). ... For a discussion of genetic heterogeneity of lymphoproliferative syndrome, see XLP1 (308240). Clinical Features Van Montfrans et al. (2012) reported a 21-year-old man of Moroccan descent, born of consanguineous parents, with combined immunodeficiency and persistent symptomatic EBV viremia since early childhood. ... Seidel (2012) reported a girl from a Viennese family of Turkish origin who presented at age 17 months with EBV-associated hemophagocytic lymphohistiocytosis syndrome (HLH) 2 months after developing infectious mononucleosis. ... Inheritance The inheritance pattern of lymphoproliferative syndrome in the families reported by van Montfrans et al. (2012) and Salzer et al. (2013) was consistent with autosomal recessive inheritance.
A rare autosomal recessive primary immunodeficiency characterized by Epstein-Barr virus (EBV)-triggered lymphoprolipherative disorders such as malignant B-cell proliferation, Hodgkin lymphoma, B-cell lymphoma and EBV-driven hemophagocytic lymphohistiocytosis (HLH). Aplastic anemia and inflammatory disorders such as uveitis and oral ulcers are also observed.