Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies (MDDGA) is a cobblestone lissencephaly characterized by and considered to be pathognomonic of a continuum of recessive autosomal disorders with brain, ocular and muscular involvement. MDDGA includes Walker-Warburg syndrome, muscle-eye-brain disease, Fukuyama muscular and cerebral dystrophy and muscle eye brain disease with bilateral multicystic leukodystrophy.
These abnormalities include: postural tremor, motor disorder, multiple sclerosis-like syndrome, spinal cord disease, skeletal changes, Parkinsonism with dystonia, anarthria, dystonia, motor and sensory peripheral neuropathy, spasticity and mild encephalopathy.
Lees et al. (1964) described a kindred in 5 generations of which 12 males and 3 females were affected with optic neuritis accompanied in some by neurologic manifestations resembling disseminated sclerosis. One had ataxia, right leg weakness and dysarthria. Another developed left hemiparesis during a 2-week period and then recovered partially. Went (1974) expressed the opinion that this kindred is an example of Leber optic atrophy (535000) and not a separate entity. Eyes - Optic atrophy - optic neuritis Neuro - Demyelination - Ataxia - Dysarthria - Hemiparesis Inheritance - Autosomal dominant - ? same as Leber optic atrophy (535000) ▲ Close
A rare non-amyloid monoclonal immunoglobulin deposition disease characterized by deposition of abnormal immunoglobulin light chains in the kidneys, resulting in nephrotic syndrome and renal failure. Symptomatic extrarenal deposition is uncommon, although hepatic, cardiac, and neural deposits have been reported.
"LCDD" redirects here. For other uses, see LCDD (disambiguation) . Light chain deposition disease Other names LCDD Specialty Oncology Light chain deposition disease ( LCDD ) is a rare blood cell disease which is characterized by deposition of fragments of infection-fighting immunoglobulins , called light chains (LCs), in the body. LCs are normally cleared by the kidneys, but in LCDD, these light chain deposits damage organs and cause disease. The kidneys are almost always affected and this often leads to kidney failure. About half of people with light chain deposition disease also have a plasma cell dyscrasia , a spectrum of diseases that includes multiple myeloma , Waldenström's macroglobulinemia , and the monoclonal gammopathy of undetermined significance premalignant stages of these two diseases. [1] [2] Unlike in AL amyloidosis , in which light chains are laid down in characteristic amyloid deposits, in LCDD, light chains are deposited in non-amyloid granules. [3] Contents 1 Signs and symptoms 2 Diagnosis 3 Treatment 4 Prognosis 5 References 6 External links Signs and symptoms [ edit ] The kidney is the organ most frequently affected. Proteinuria , the presence of protein in the urine, is characteristic.
Signs and symptoms of LCDD may include protein in the urine ; decreased kidney function; and/or nephrotic syndrome . Rarely, a person with LCDD may have symptoms from cardiac (heart) or liver involvement.
The malformation may be asymptomatic or manifest with various signs including abdominal mass, abdominal pain, transit troubles or subocclusive syndrome. Mild digestive hemorrhage, perforation, pancreatitis and neonatal respiratory distress are possible complications.
A rare non-syndromic limb overgrowth characterized by isolated congenital enlargement of some or all tissue elements of one or more digits of the hand, typically within a peripheral nerve territory, with the nerve itself being elongated, as well as increased in diameter.
There have been cases of people with macrodactyly also having carpal tunnel syndrome. Surgery, usually involving multiple procedures, can help the condition.
However, the majority of survivors subsequently developed neurological or psychiatric disorders, often after years or decades of seemingly perfect health. Post-encephalitic syndromes varied widely: sometimes they proceeded rapidly, leading to profound disability or death; sometimes very slowly; sometimes they progressed to a certain point and then stayed at this point for years or decades; and sometimes, following their initial onslaught, they remitted and disappeared. [25] Postencephaltic Parkinsonism is perhaps the most widely recognized of such syndromes. [ citation needed ] Diagnosis [ edit ] There have been several proposed diagnostic criteria for encephalitis lethargica. ... R.; Giovannoni, Gavin (2004). "Encephalitis Lethargica Syndrome: 20 New Cases and Evidence of Basal Ganglia Autoimmunity" . ... External links [ edit ] Classification D ICD - 10 : A85.8 ICD - 9-CM : 049.8 DiseasesDB : 32498 National Institute of Neurological Disorders and Stroke Mystery of the Forgotten Plague : BBC news item about the tracing of the infectious agent in encephalitis lethargica v t e Infectious diseases – viral systemic diseases Oncovirus DNA virus HBV Hepatocellular carcinoma HPV Cervical cancer Anal cancer Penile cancer Vulvar cancer Vaginal cancer Oropharyngeal cancer KSHV Kaposi's sarcoma EBV Nasopharyngeal carcinoma Burkitt's lymphoma Hodgkin lymphoma Follicular dendritic cell sarcoma Extranodal NK/T-cell lymphoma, nasal type MCPyV Merkel-cell carcinoma RNA virus HCV Hepatocellular carcinoma Splenic marginal zone lymphoma HTLV-I Adult T-cell leukemia/lymphoma Immune disorders HIV AIDS Central nervous system Encephalitis / meningitis DNA virus Human polyomavirus 2 Progressive multifocal leukoencephalopathy RNA virus MeV Subacute sclerosing panencephalitis LCV Lymphocytic choriomeningitis Arbovirus encephalitis Orthomyxoviridae (probable) Encephalitis lethargica RV Rabies Chandipura vesiculovirus Herpesviral meningitis Ramsay Hunt syndrome type 2 Myelitis Poliovirus Poliomyelitis Post-polio syndrome HTLV-I Tropical spastic paraparesis Eye Cytomegalovirus Cytomegalovirus retinitis HSV Herpes of the eye Cardiovascular CBV Pericarditis Myocarditis Respiratory system / acute viral nasopharyngitis / viral pneumonia DNA virus Epstein–Barr virus EBV infection / Infectious mononucleosis Cytomegalovirus RNA virus IV : Human coronavirus 229E / NL63 / HKU1 / OC43 Common cold MERS coronavirus Middle East respiratory syndrome SARS coronavirus Severe acute respiratory syndrome SARS coronavirus 2 Coronavirus disease 2019 V , Orthomyxoviridae : Influenza virus A / B / C / D Influenza / Avian influenza V, Paramyxoviridae : Human parainfluenza viruses Parainfluenza Human orthopneumovirus hMPV Human digestive system Pharynx / Esophagus MuV Mumps Cytomegalovirus Cytomegalovirus esophagitis Gastroenteritis / diarrhea DNA virus Adenovirus Adenovirus infection RNA virus Rotavirus Norovirus Astrovirus Coronavirus Hepatitis DNA virus HBV ( B ) RNA virus CBV HAV ( A ) HCV ( C ) HDV ( D ) HEV ( E ) HGV ( G ) Pancreatitis CBV Urogenital BK virus MuV Mumps v t e Diseases of the nervous system , primarily CNS Inflammation Brain Encephalitis Viral encephalitis Herpesviral encephalitis Limbic encephalitis Encephalitis lethargica Cavernous sinus thrombosis Brain abscess Amoebic Brain and spinal cord Encephalomyelitis Acute disseminated Meningitis Meningoencephalitis Brain / encephalopathy Degenerative Extrapyramidal and movement disorders Basal ganglia disease Parkinsonism PD Postencephalitic NMS PKAN Tauopathy PSP Striatonigral degeneration Hemiballismus HD OA Dyskinesia Dystonia Status dystonicus Spasmodic torticollis Meige's Blepharospasm Athetosis Chorea Choreoathetosis Myoclonus Myoclonic epilepsy Akathisia Tremor Essential tremor Intention tremor Restless legs Stiff-person Dementia Tauopathy Alzheimer's Early-onset Primary progressive aphasia Frontotemporal dementia / Frontotemporal lobar degeneration Pick's Dementia with Lewy bodies Posterior cortical atrophy Vascular dementia Mitochondrial disease Leigh syndrome Demyelinating Autoimmune Inflammatory Multiple sclerosis For more detailed coverage, see Template:Demyelinating diseases of CNS Episodic/ paroxysmal Seizures and epilepsy Focal Generalised Status epilepticus For more detailed coverage, see Template:Epilepsy Headache Migraine Cluster Tension For more detailed coverage, see Template:Headache Cerebrovascular TIA Stroke For more detailed coverage, see Template:Cerebrovascular diseases Other Sleep disorders For more detailed coverage, see Template:Sleep CSF Intracranial hypertension Hydrocephalus Normal pressure hydrocephalus Choroid plexus papilloma Idiopathic intracranial hypertension Cerebral edema Intracranial hypotension Other Brain herniation Reye syndrome Hepatic encephalopathy Toxic encephalopathy Hashimoto's encephalopathy Both/either Degenerative SA Friedreich's ataxia Ataxia–telangiectasia MND UMN only: Primary lateral sclerosis Pseudobulbar palsy Hereditary spastic paraplegia LMN only: Distal hereditary motor neuronopathies Spinal muscular atrophies SMA SMAX1 SMAX2 DSMA1 Congenital DSMA Spinal muscular atrophy with lower extremity predominance (SMALED) SMALED1 SMALED2A SMALED2B SMA-PCH SMA-PME Progressive muscular atrophy Progressive bulbar palsy Fazio–Londe Infantile progressive bulbar palsy both: Amyotrophic lateral sclerosis
Encephalitis lethargica (EL) is a disease characterized by high fever, headache, double vision, delayed physical and mental response, extreme tiredness ( lethargy ), and sometimes coma . Patients may also experience abnormal eye movements, upper body weakness, muscle pain, tremors , neck rigidity, and behavioral changes including psychosis . A worldwide epidemic of EL occurred from 1917 to 1928 with more than one million reported cases. Although occasional cases are reported with similar symptoms, EL epidemics have not recurred. The cause of this condition is unknown, but a viral origin is suspected.
Bilateral agenesis, however, is frequently associated with other congenital cardiac anomalies and/or conduction abnormalities (such as tetralogy of Fallot, atrial septal defect) and typically present symptoms of SVC syndrome.
A rare neonatal epilepsy syndrome characterized by seizures without specific underlying etiology, occurring during the first days of life in infants with an otherwise normal neurological state and no family history of neonatal convulsions.
A rare localized variant of Guillain-Barré syndrome characterized by rapidly progressive bilateral facial nerve palsy, distal paresthesias, and minimal or no motor weakness.
White forelock with malformations is a multiple congenital anomalies syndrome characterized by poliosis, distinct facial features (epicanthal folds, hypertelorism, posterior rotation of ears, prominent philtrum, high-arched palate) and congenital anomalies/malformations of the eye (blue sclera), cardiopulmonary (atrial septal defect, prominent thoracic and abdominal veins), and skeletal (clinodactyly, syndactyly of the fingers and 2nd and 3rd toes) systems.
Goodman et al. (1980) reported the cases of 2 Ashkenazi Jewish brothers with a 'new' syndrome of white forelock (poliosis), distinctive facial features and congenital malformations of the ocular, cardiopulmonary and skeletal systems.
Blake pouch cyst is a non-syndromic, usually benign, cystic malformation of the posterior fossa characterized by a midline outpouching of the superior medullary velum into the cisterna magna that results from failure of the rudimental fourth ventricular tela choroidea to regress during embryogenesis.
Benign partial epilepsy with secondarily generalized seizures in infancy is a rare infantile epilepsy syndrome characterized by seizures presenting with motion arrest and staring.
Familial vesicoureteral reflux is a rare, non-syndromic urogenital tract malformation characterized by the familial occurrence of retrograde flow of urine from the bladder into the ureter and sometimes the kidneys.
They suggested that since VUR can be seen in the contralateral side of individuals with syndromic or nonsyndromic multicystic renal dysplasia, ureterovesical junction obstruction, pelviureteral junction obstruction, ureteral duplication, renal hypoplasia, and renal aplasia, these different urologic malformations not only have a related pathogenesis, but may be caused by mutations in the same genes. ... Sanyanusin et al. (1995) demonstrated mutations in the PAX2 gene (167409.0001) in renal coloboma syndrome (120330), of which VUR is a part.
A rare syndrome with combined immunodeficiency characterized by intrauterine and postnatal growth retardation, chronic neutropenia, and natural killer (NK) cell deficiency due a defect in DNA replication leading to blockade of immune cell differentiation in the bone marrow, particularly affecting NK cells.
A number sign (#) is used with this entry because of evidence that immunodeficiency-55 (IMD55) is caused by compound heterozygous mutation in the GINS1 gene (610608) on chromosome 20p11. Description Immunodeficiency-55 is an autosomal recessive primary immunodeficiency characterized by intrauterine growth retardation, natural killer (NK) cell deficiency, and chronic neutropenia. Most patients also have postnatal growth retardation. Other clinical manifestations include mild facial dysmorphism, dry or eczematous skin, and recurrent infections with both viruses and bacteria. The disorder appears to result from a defect in DNA replication causing blockade of immune cell differentiation in the bone marrow, particularly affecting NK cells (summary by Cottineau et al., 2017). Clinical Features Bernard et al. (2004) reported 2 French sisters, born of unrelated parents, with NK cell deficiency.
PHIP-related disorder , also known as Chung-Jansen syndrome, is a rare condition caused by a change in the pleckstrin homology domain-interacting protein (PHIP) gene.
Patient 1 was a 14-year-old girl who also had insulin resistance and polycystic ovary syndrome, and patient 2 was an 8-year-old girl with behavioral issues, including aggression.
Idiopathic recurrent pericarditis is a rare autoinflammatory syndrome defined as recurrence of pericardial inflammation of unknown origin following the first episode of acute pericarditis and a symptom-free interval of 4-6 weeks or longer.
Cryptogenic late-onset epileptic spasms is a rare epilepsy syndrome characterized by late-onset (after 1 year old) epileptic spasms that ocurr in clusters, associated with tonic seizures, atypical absences and cognitive deterioration.