Like the previously reported patient, this patient also had recurrent middle ear infections and mild conductive hearing loss. Nomenclature The syndrome described here was designated 'Tsukahara syndrome' by Utine et al. (2010). This syndrome is distinct from the 'Tsukahara syndrome' involving radioulnar synostosis, microcephaly, short stature, scoliosis, and mental retardation (603438).
Clinically, the disease may manifest as various types of incessant arrhythmia (including atrial and ventricular fibrillation, supraventricular and ventricular tachycardia and Wolff-Parkinson-White syndrome) but sudden death due to cardiac arrest is a common presentation (20%). ... Association with other cardiac defects (ventricular and atrial septal defects, hypoplastic left heart syndrome, endocardial fibroelastosis and left ventricle noncompaction) and with extracardiac anomalies (hypotonia, MIDAS syndrome, Peters anomaly, and congenital glaucoma) has also been reported in 16 and 17% of cases respectively. ... Differential diagnosis As sudden infant death is frequently the presenting manifestation, sudden infant death syndrome (SIDS) is often the initial diagnosis in these cases but can be ruled out by histological evaluation of the myocardial tissue.
Infants present with dysrhythmia or cardiac arrest, and the clinical course is usually fulminant, sometimes simulating sudden infant death syndrome (Andreu et al., 2000). Clinical Features Malhotra et al. (1994) presented a table reviewing the 50 reported cases of histiocytoid cardiomyopathy and added 3 'new' cases. ... Malhotra et al. (1994) concluded that the syndrome is likely caused by prenatal myocardial or systemic, possibly viral, injury.
Deacon et al. (1974) described brother and sister with a form of infantile cardiomyopathy characterized by accumulation of lipid in the sarcoplasm of myocardial fibers. Only sporadic cases had been reported previously (Reid et al., 1968). In Deacon's cases onset was at birth and 4 weeks of age and death at 19 days and 4 months from congestive heart failure. Both had microcephaly. Severe mitochondrial changes were found in the myocardial fibrils in addition to the accumulation of neutral fat. The parents were thought to be nonconsanguineous. McKusick (2002) noted that these may be cases of infantile histiocytoid cardiomyopathy (500000).
A number sign (#) is used with this entry because of evidence that hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome (HADDTS) is caused by heterozygous mutation in the CTBP1 gene (602618) on chromosome 4p16.
Maxillary hypoplasia Specialty Maxillofacial surgery Maxillary hypoplasia, or maxillary deficiency , is an underdevelopment of the bones of the upper jaw . It is associated with Crouzon syndrome , Angelman syndrome , [1] as well as fetal alcohol syndrome . ... They also require regular checkups with the doctor to monitor bone displacement, signs of infection, or other issues. [2] References [ edit ] ^ Van Buggenhout G, Fryns JP (2009). "Angelman syndrome (AS, MIM 105830)" . Eur J Hum Genet . 17 (11): 1367–73. doi : 10.1038/ejhg.2009.67 .
This disorder differs from the familial myeloproliferative syndrome (254700) by the mode of inheritance and benign course. ... All affected individuals were clinically asymptomatic except the proband, who presented with a unique episode of systemic inflammatory response syndrome that combined fever, tachycardia, dyspnea, pleural and pericardial effusion, hepatosplenomegaly, and weight loss. ... After this episode, the patient returned to chronic neutrophilia, but 18 months later he developed a myelodysplastic syndrome involving refractory anemia with an excess of blasts (RAEB); bone marrow aspirate showed marked dysgranulopoiesis but no dyserythropoiesis or dysmegakaryopoiesis, and cytogenetic analysis revealed a clonal abnormality (chromosome 3q26 deletion) in 70% of metaphases. ... INHERITANCE - Autosomal dominant HEMATOLOGY - Neutrophilia - Segmented neutrophils or band cells greater than 70% MISCELLANEOUS - Most patients clinically asymptomatic - Myelodysplastic syndrome developed in 1 of 12 mutation-positive patients MOLECULAR BASIS - Caused by mutation in the granulocyte colony-stimulating factor-3 receptor gene (CSF3R, 138971.0001 ) ▲ Close
Patients are predominantly asymptomatic, but may present with systemic inflammatory response syndrome with fever, dyspena, tachycardia, pleural and pericardial effusion, or myelodysplastic syndrome.
The PT dysfunction may be more severe, causing Fanconi syndrome, where these features are associated with aminoaciduria, phosphaturia, glycosuria, uricosuria, kaliuresis, and impaired urinary acidification. ... The occurrence of these predominantly renal manifestations is referred to as Dent disease type 1 (see this term) while occurrence of associated extra-renal manifestations such as mild intellectual impairment, hypotonia and sub-clinical cataract (i.e. symptoms milder than in the oculocerebrorenal syndrome of Lowe) is referred to as Dent disease type 2 (see this term). ... OCRL1 encodes a phosphatidylinositol bisphosphate (PIP2) 5-phosphatase and mutations are also associated with Lowe Syndrome. A few patients with Dent disease do not harbor mutations in CLCN5 and OCRL1 , pointing to the involvement of other genes. ... Differential diagnosis Differential diagnosis includes the other causes of generalized proximal tubule dysfunction (renal Fanconi syndrome; see this term), hereditary, acquired, or caused by exogenous substances.
It has been suggested that pathogenic variants in OCRL are associated with a phenotypic spectrum ranging from Lowe syndrome at the severe end (see Genetically Related Disorders) to Dent disease 2 at the mild end. Note: Although the renal tubulopathy in Lowe syndrome (which is mainly characterized by altered protein reabsorption) and Dent disease is similar, it is generally milder in Dent disease. ... Differential Diagnosis The differential diagnosis of Dent disease includes other causes of proximal tubular dysfunction. Renal Fanconi syndrome. The presence of more generalized proximal tubular dysfunction (glucosuria, amino aciduria, renal tubular acidosis) would suggest the possibility of a renal Fanconi syndrome. Causes of renal Fanconi syndromes can be hereditary (e.g., Wilson disease, glycogen storage disease) or acquired (e.g., exposure to heavy metal, toluene, or cisplatin). ... Note: Citrate is commonly used in Lowe syndrome to treat the metabolic acidosis resulting from renal tubular acidosis.
There is no specific scientific definition of what "spoiled" means, and professionals are often unwilling to use the label because it is considered vague and derogatory. [1] [2] Being spoiled is not recognized as a mental disorder in any of the medical manuals, such as the ICD-10 [3] or the DSM-IV , [4] or its successor, the DSM-5 . [5] Contents 1 As syndrome 1.1 Potential causes 1.2 Differential diagnosis 1.3 Prevention 1.4 Treatment 2 Infants 3 Only children 4 Later life 5 See also 6 References 7 Further reading As syndrome Richard Weaver, in his work Ideas Have Consequences , introduced the term “spoiled child psychology” in 1948. In 1989, Bruce McIntosh coined the term the "spoiled child syndrome". [1] The syndrome is characterized by "excessive, self-centered, and immature behavior". ... McIntosh (January 1989). "Spoiled Child Syndrome" . Pediatrics . 83 (1): 108–115. ... Retrieved 2017-03-22 . ^ a b c d e f g Vidya Bhushan Gupta (1999). "Spoiled Child Syndrome". Manual of Developmental and Behavioral Problems in Children . ... McIntosh (January 1989). "Spoiled Child Syndrome" . Pediatrics . 83 (1): 108–115.
Some of the syndromes are not common but recognized for the relation to NBD such as acute meningeal syndrome, tumor-like neuro-Behçet's disease, psychiatric symptoms and optic neuropathy. ... "Neurologic involvement in Behçet's syndrome. A prospective study". Arch Neurol . 46 (3): 265–269. doi : 10.1001/archneur.1989.00520390031011 . PMID 2919979 . ^ Yazici H, Fresko I, Yurdakul S (2007). "Behçet's syndrome: disease manifestations, management, and advances in treatment". ... "Neurological complications of Behçet's syndrome" . Brain . 122 (11): 2183–94. doi : 10.1093/brain/122.11.2183 . ... "CNS involvement in neuro-Behçet syndrome: an MR study" . AJNR. American Journal of Neuroradiology . 20 (6): 1015–24.
Spontaneous venous pulsations are present in about 80 percent of patients with ODD, but absent in cases of true disc edema. [6] Other causes of disc elevation clinicians must exclude may be: hyaloid traction, epipapillary glial tissue, myelinated nerve fibres, scleral infiltration, vitreopapillary traction and high hyperopia . [9] Disorders associated with disc elevation include: Alagille syndrome , Down syndrome , Kenny-Caffey syndrome, [10] Leber Hereditary Optic Neuropathy and linear nevus sebaceous syndrome. [11] Management [ edit ] Patients with optic disc drusen should be monitored periodically via ophthalmoscopy , Snellen acuity , contrast sensitivity , color vision , intraocular pressure and threshold visual fields . [6] For those with visual field defects optical coherence tomography has been recommended for follow up of nerve fiber layer thickness. [12] Associated conditions such as angioid streaks and retinitis pigmentosa should be screened for. ... Certain conditions have been associated with disc drusen such as retinitis pigmentosa , angioid streaks , Usher syndrome , Noonan syndrome [22] and Alagille syndrome . [1] [23] Optic disc drusen are not related to Bruch membrane drusen of the retina which have been associated with age-related macular degeneration . [6] See also [ edit ] Drusen References [ edit ] ^ a b c Golnik, K. (2006). ... ISBN 978-0-7817-4811-7 . ^ Online Mendelian Inheritance in Man (OMIM): Kenny-Caffey Syndrome type 2 - 127000 ^ Online Mendelian Inheritance in Man (OMIM): Schimmelpenning-Feuerstein-MIMS Syndrome - 163200 ^ Calvo-González C, Santos-Bueso E, Díaz-Valle D, et al. ... ISBN 978-0-07-137831-4 . ^ Online Mendelian Inheritance in Man (OMIM): Noonan syndrome - 163950 ^ Nischal KK, Hingorani M, Bentley CR, et al. (January 1997). "Ocular ultrasound in Alagille syndrome: a new sign". Ophthalmology . 104 (1): 79–85. doi : 10.1016/s0161-6420(97)30358-3 .
A number sign (#) is used with this entry because the French Canadian type of Leigh syndrome is caused by homozygous or compound heterozygous mutation in the LRPPRC gene (607544) on chromosome 2p21. Description The French Canadian type of Leigh syndrome is an autosomal recessive severe neurologic disorder with onset in infancy. ... Debray et al. (2011) retrospectively reviewed the clinical course of 56 patients with genetically confirmed French Canadian Leigh syndrome. The median age at onset was 5 months, and patients presented with neonatal distress, psychomotor delay, failure to thrive, ataxia, and acute metabolic acidosis. ... There was a higher incidence of these acute episodes in patients with LRPPC mutations compared to patients with Leigh syndrome due to SURF1 (185620) mutations (see 256000). ... Neuroimaging in 2 patients showed features consistent with Leigh syndrome, but lesions were absent in other patients.
Jean (SLSJ) type congenital lactic acidosis, a French Canadian form of Leigh syndrome (see this term), is a mitochondrial disease characterized by chronic metabolic acidosis, hypotonia, facial dysmorphism and delayed development. ... Differential diagnosis Differential diagnoses include other forms of Leigh syndrome and other possible causes of metabolic acidosis such as MELAS syndrome, glucose-6-phosphate dehydrogenase (G6PD) deficiency, pyruvate dehydrogenase deficiency, and pyruvate carboxylase deficiency (see these terms).
PURA -related neurodevelopmental disorders include PURA syndrome, caused by a heterozygous pathogenic sequence variant in PURA , and 5q31.3 deletion syndrome, caused by a genomic 5q31.3 deletion encompassing all or part of PURA. ... Development. All 71 individuals with PURA syndrome reported to date have had moderate-to-severe neurodevelopmental delay. ... PURA -related neurodevelopmental disorders encompass both PURA syndrome and the 5q31.3 deletion syndrome. ... Eight individuals with the 5q31.3 deletion syndrome have been reported. Based on the study of Hunt et al [2014], the estimated frequency of PURA syndrome as a cause of intellectual disability is 3:1,133 (0.3%). ... Differential Diagnosis Disorders in the differential diagnosis of PURA -related neurodevelopmental disorders are: Congenital central hypoventilation syndrome Prader-Willi syndrome Lower extremity-predominant autosomal dominant spinal muscular atrophy 1 (OMIM 158600) / distal autosomal recessive spinal muscular atrophy 1 (OMIM 604320) Myotonic dystrophy in the newborn (see Myotonic Dystrophy Type 1) Neurotransmitter disorder [Pearl et al 2007] Rett syndrome Pitt-Hopkins syndrome Angelman syndrome See Mental retardation, autosomal dominant: OMIM Phenotypic Series to view genes associated with this phenotype in OMIM.
One possible factor could be the natural accumulation of iron in the basal ganglia, causing neurodegeneration due to its involvement in toxic, free-radical reactions. [3] Though motor disorders are the most common associated with the basal ganglia, recent research shows that basal ganglia disorders can lead to other dysfunctions such as obsessive–compulsive disorder (OCD) and Tourette syndrome . [4] Contents 1 Basal ganglia circuits 1.1 Direct pathway 1.2 Indirect pathway 2 Associated disorders 2.1 Hypokinetic disorders 2.1.1 Parkinsonism 2.2 Hyperkinetic disorders 2.2.1 Huntington's disease 2.2.2 Dystonia 2.2.3 Hemiballismus 2.3 Other basal ganglia diseases 2.3.1 Tourette syndrome/obsessive–compulsive disorder 2.3.2 Sydenham's chorea 2.3.3 PANDAS 2.3.4 Dyskinetic cerebral palsy 2.3.5 Athymhormic syndrome 2.3.6 Lesch–Nyhan syndrome 2.3.7 Wilson's disease 2.3.8 Fahr's disease and calcifications 2.3.9 Blepharospasm 3 Research 3.1 Gene therapy 3.2 Ablation 3.3 Deep brain stimulation 4 See also 5 References 6 External links Basal ganglia circuits [ edit ] Connectivity diagram showing excitatory glutamatergic pathways as red, inhibitory GABAergic pathways as blue, and modulatory dopaminergic as magenta. ... Since the internal segment of the globus pallidus (GPi) is the link in the circuit between the STN and thalamic projection, destruction of localized brain cells in the GPi via a pallidotony has proven to serve as a useful treatment for Hemiballismus. [9] Other basal ganglia diseases [ edit ] The following diseases that generally involve the basal ganglia do not clearly fit into being either hypo- or hyperkinetic. Tourette syndrome/obsessive–compulsive disorder [ edit ] Main articles: Tourette syndrome and Obsessive–compulsive disorder Tourette syndrome is a disorder that is characterized by behavioral and motor tics, OCD and attention deficit hyperactivity disorder (ADHD). ... It has been proposed that this autoimmune response can result in a broad range of neuropsychiatric symptoms. [17] [18] Dyskinetic cerebral palsy [ edit ] Main article: Dyskinetic cerebral palsy Dyskinetic cerebral palsy is a type of cerebral palsy primarily associated with damage to the basal ganglia in the form of lesions that occur during brain development due to bilirubin encephalopathy and hypoxic-ischemic brain injury. [19] Symptoms include slow, uncontrolled movements of the extremities and trunk [20] and small, rapid, random and repetitive, uncontrolled movements known as chorea . [21] Involuntary movements often increase during periods of emotional stress or excitement and disappear when the patient is sleeping or distracted. [21] Athymhormic syndrome [ edit ] Main article: Athymhormic syndrome Athymhormic syndrome is a rare psychopathological and neurological syndrome characterized by extreme passivity, apathy , blunted affect , and a profound generalized loss of self-motivation. The syndrome is believed to be due to damage to areas of the basal ganglia or frontal cortex , specifically the striatum and globus pallidus , responsible for motivation and executive functions. [22] Lesch–Nyhan syndrome [ edit ] Main article: Lesch–Nyhan syndrome Lesch–Nyhan syndrome is a rare X-linked recessive disorder caused by a deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HGPRT), leading to uric acid build-up and a deficiency in dopamine production. [23] Within the first few years of life, extrapyramidal involvement causes abnormal involuntary muscle contractions such as loss of motor control ( dystonia ), writhing motions ( choreoathetosis ) and arching of the spine ( opisthotonus ). ... ISBN 9780521774826 . ^ Lesch–Nyhan syndrome. Genetics Home Reference. Retrieved on 2007-05-24. ^ Gualtieri, C.
A number sign (#) is used with this entry because immunodeficiency-centromeric instability-facial anomalies syndrome-2 (ICF2) is caused by homozygous or compound heterozygous mutation in the ZBTB24 gene (614064) on chromosome 6q21. Description Immunodeficiency, centromeric instability, and facial dysmorphism (ICF) syndrome is a rare autosomal recessive disorder characterized by facial dysmorphism, immunoglobulin deficiency resulting in recurrent infections, and mental retardation. ... For a discussion of genetic heterogeneity of immunodeficiency-centromeric instability-facial anomalies syndrome, see ICF1 (242860). Clinical Features De Greef et al. (2011) reported 7 patients from 6 families with agammaglobulinemia, facial anomalies, and mental retardation.
A number sign (#) is used with this entry because of evidence that proteasome-associated autoinflammatory syndrome-2 (PRAAS2) is caused by heterozygous mutation in the POMP gene (613386) on chromosome 13q12. Description Proteasome-associated autoinflammatory syndrome-2 is an autosomal dominant disorder with onset in early infancy. ... The findings suggested an autoinflammatory syndrome. Poli et al. (2018) reported 2 unrelated boys with a severe neonatal-onset inflammatory disease.
Description Restless legs syndrome (RLS) is a neurologic sleep/wake disorder characterized by uncomfortable and unpleasant sensations in the legs that appear at rest, usually at night, inducing an irresistible desire to move the legs. ... For additional information and a discussion of genetic heterogeneity of restless legs syndrome, see RLS1 (102300). Mapping Chen et al. (2004) characterized 15 large and extended multiplex pedigrees consisting of 453 subjects, of whom 134 were affected with restless legs syndrome.