Macrocephaly, and Gliosis

Diseases related with Macrocephaly and Gliosis

In the following list you will find some of the most common rare diseases related to Macrocephaly and Gliosis that can help you solving undiagnosed cases.

Top matches:

Vanishing white matter leukodystrophy is an autosomal recessive neurologic disorder characterized by variable neurologic features, including progressive cerebellar ataxia, spasticity, and cognitive impairment associated with white matter lesions on brain imaging. The age at onset can range from early infancy to adulthood. Rapid neurologic deterioration can occur following minor head trauma. Female mutation carriers may develop ovarian failure, manifest as primary amenorrhea or as secondary amenorrhea lasting more than 6 months, associated with elevated gonadotropin levels at age less than 40 years (summary by Van der Knaap et al., 1998 and Schiffmann et al., 1997).

LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER; VWM Is also known as cach|cle|childhood ataxia with central nervous system hypomyelinization|cree leukoencephalopathy|vanishing white matter leukodystrophy

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Ataxia
  • Muscle weakness
  • Muscular hypotonia


SOURCES: ORPHANET OMIM MENDELIAN

More info about LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER; VWM

L-2-hydroxyglutaric aciduria is a primarily neurological form of 2-hydroxyglutaric aciduria (see this term) characterized by psychomotor retardation, cerebellar ataxia and variable macrocephaly or epilepsy.

L-2-HYDROXYGLUTARIC ACIDURIA Is also known as l-2-hga|l-2-hydroxyglutaric acidemia

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Ataxia


SOURCES: OMIM ORPHANET MENDELIAN

More info about L-2-HYDROXYGLUTARIC ACIDURIA

Molybdenum cofactor deficiency (MOCOD) is a rare autosomal recessive metabolic disorder characterized by onset in infancy of poor feeding, intractable seizures, and severe psychomotor retardation. Characteristic biochemical abnormalities include decreased serum uric acid and increased urine sulfite levels due to the combined enzymatic deficiency of xanthine dehydrogenase (XDH ) and sulfite oxidase (SUOX ), both of which use molybdenum as a cofactor. Most affected individuals die in early childhood (summary by Reiss, 2000; Reiss et al., 2011). Genetic Heterogeneity of Molybdenum Cofactor DeficiencySee also MOCOD, complementation group B (MOCODB ), caused by mutation in the MOCS2 gene (OMIM ) on chromosome 5q11; and MOCOD, complementation group C (MOCODC ), caused by mutation in the GPHN gene (OMIM ) on chromosome 14q24.

SULFITE OXIDASE DEFICIENCY DUE TO MOLYBDENUM COFACTOR DEFICIENCY TYPE A Is also known as sulfite oxidase, xanthine dehydrogenase, and aldehyde oxidase, combined deficiency of|combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type a|mocod type a

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about SULFITE OXIDASE DEFICIENCY DUE TO MOLYBDENUM COFACTOR DEFICIENCY TYPE A

Other less relevant matches:

Molybdenum cofactor deficiency is a rare autosomal recessive metabolic disorder characterized by neonatal onset of intractable seizures, opisthotonus, and facial dysmorphism associated with hypouricemia and elevated urinary sulfite levels. Affected individuals show severe neurologic damage and often die in early childhood (summary by Reiss et al., 1999).For a general phenotypic description and a discussion of genetic heterogeneity of MOCOD, see MOCODA (OMIM ), which is clinically indistinguishable from MOCODB.

SULFITE OXIDASE DEFICIENCY DUE TO MOLYBDENUM COFACTOR DEFICIENCY TYPE B Is also known as combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type b|mocod type b

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Growth delay


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about SULFITE OXIDASE DEFICIENCY DUE TO MOLYBDENUM COFACTOR DEFICIENCY TYPE B

Adams-Oliver syndrome-2 is an autosomal recessive multiple congenital anomaly syndrome characterized by aplasia cutis congenita (ACC) and terminal transverse limb defects, in association with variable involvement of the brain, eyes, and cardiovascular systems (summary by Shaheen et al., 2011).For a discussion of genetic heterogeneity of Adams-Oliver syndrome, see AOS1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about ADAMS-OLIVER SYNDROME 2; AOS2

Glutaryl-CoA dehydrogenase (GCDH) deficiency (GDD) is an autosomal recessive neurometabolic disorder clinically characterized by encephalopathic crises resulting in striatal injury and a severe dystonic dyskinetic movement disorder.

GLUTARYL-COA DEHYDROGENASE DEFICIENCY Is also known as ga i|glutaric aciduria i|gcdhd|ga1|glutaryl-coenzyme a dehydrogenase deficiency|glutaric aciduria type 1|glutaric acidemia type 1|glutaryl-coa dehydrogenase deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Failure to thrive


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about GLUTARYL-COA DEHYDROGENASE DEFICIENCY

In decreasing order of frequency, 3 forms of Alexander disease are recognized, based on age of onset: infantile, juvenile, and adult. Younger patients typically present with seizures, megalencephaly, developmental delay, and spasticity. In older patients, bulbar or pseudobulbar symptoms predominate, frequently accompanied by spasticity. The disease is progressive, with most patients dying within 10 years of onset. Imaging studies of the brain typically show cerebral white matter abnormalities, preferentially affecting the frontal region (Gorospe et al., 2002). All 3 forms have been shown to be caused by mutations in the GFAP gene.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Scoliosis
  • Ataxia


SOURCES: ORPHANET OMIM MENDELIAN

More info about ALEXANDER DISEASE; ALXDRD

D-bifunctional protein deficiency is a disorder of peroxisomal fatty acid beta-oxidation. See also peroxisomal acyl-CoA oxidase deficiency (OMIM ), caused by mutation in the ACOX1 gene (OMIM ) on chromosome 17q25. The clinical manifestations of these 2 deficiencies are similar to those of disorders of peroxisomal assembly, including X-linked adrenoleukodystrophy (ALD ), Zellweger cerebrohepatorenal syndrome (see {214100}) and neonatal adrenoleukodystrophy (NALD; see {601539}) (Watkins et al., 1995).DBP deficiency has been classified into 3 subtypes depending upon the deficient enzyme activity. Type I is a deficiency of both 2-enoyl-CoA hydratase and 3-hydroxyacyl-CoA dehydrogenase; type II is a deficiency of hydratase activity alone; and type III is a deficiency of dehydrogenase activity alone. Virtually all patients with types I, II, and III have a severe phenotype characterized by infantile-onset of hypotonia, seizures, and abnormal facial features, and most die before age 2 years. McMillan et al. (2012) proposed a type IV deficiency on the basis of less severe features; these patients have a phenotype reminiscent of Perrault syndrome (PRLTS1 ). Pierce et al. (2010) noted that Perrault syndrome and DBP deficiency overlap clinically and suggested that DBP deficiency may be underdiagnosed.

D-BIFUNCTIONAL PROTEIN DEFICIENCY Is also known as peroxisomal bifunctional enzyme deficiency|dbp deficiency|17-beta-hydroxysteroid dehydrogenase iv deficiency|pbfe deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Hypertelorism


SOURCES: ORPHANET OMIM MENDELIAN

More info about D-BIFUNCTIONAL PROTEIN DEFICIENCY

Glutaric aciduria II (GA2) is an autosomal recessively inherited disorder of fatty acid, amino acid, and choline metabolism. It differs from GA I (GA1 ) in that multiple acyl-CoA dehydrogenase deficiencies result in large excretion not only of glutaric acid, but also of lactic, ethylmalonic, butyric, isobutyric, 2-methyl-butyric, and isovaleric acids. GA II results from deficiency of any 1 of 3 molecules: the alpha (ETFA) and beta (ETFB) subunits of electron transfer flavoprotein, and electron transfer flavoprotein dehydrogenase (ETFDH). The clinical picture of GA II due to the different defects appears to be indistinguishable; each defect can lead to a range of mild or severe cases, depending presumably on the location and nature of the intragenic lesion, i.e., mutation, in each case (Goodman, 1993; Olsen et al., 2003).The heterogeneous clinical features of patients with MADD fall into 3 classes: a neonatal-onset form with congenital anomalies (type I), a neonatal-onset form without congenital anomalies (type II), and a late-onset form (type III). The neonatal-onset forms are usually fatal and are characterized by severe nonketotic hypoglycemia, metabolic acidosis, multisystem involvement, and excretion of large amounts of fatty acid- and amino acid-derived metabolites. Symptoms and age at presentation of late-onset MADD are highly variable and characterized by recurrent episodes of lethargy, vomiting, hypoglycemia, metabolic acidosis, and hepatomegaly often preceded by metabolic stress. Muscle involvement in the form of pain, weakness, and lipid storage myopathy also occurs. The organic aciduria in patients with the late-onset form of MADD is often intermittent and only evident during periods of illness or catabolic stress (summary by Frerman and Goodman, 2001).Importantly, riboflavin treatment has been shown to ameliorate the symptoms and metabolic profiles in many MADD patients, particularly those with type III, the late-onset and mildest form (Liang et al., 2009).

MULTIPLE ACYL-COA DEHYDROGENASE DEFICIENCY; MADD Is also known as ema|ethylmalonic-adipicaciduria|glutaric aciduria ii|ga ii|glutaric acidemia ii|ga2

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia


SOURCES: OMIM ORPHANET MENDELIAN

More info about MULTIPLE ACYL-COA DEHYDROGENASE DEFICIENCY; MADD

Multiple congenital anomalies-hypotonia-seizures syndrome type 2 is a rare, genetic, lethal, neurometabolic malformation syndrome characterized by multiple, variable, congenital cardiac (systolic murmur, atrial septal defect), urinary (duplicated collecting system, vesicoureteral reflux) and central nervous system (thin corpus callosum, cerebellar hypoplasia) malformations associated with neonatal hypotonia, early-onset epileptic encephalopathy, and myoclonic seizures. Craniofacial dysmorphism (prominent occiput, enlarged fontanel, fused metopic suture, upslanted palpebral fissures, overfolded helix, depressed nasal bridge, anteverted nose, malar flattening, microstomy with downturned corners, Pierre-Robin sequence, high arched palate, short neck) and other manifestions (joint contractures, hyperreflexia, dysplastic nails, developmental delay) are also observed.

MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME TYPE 2 Is also known as epileptic encephalopathy, early infantile, 20|gpibd4|mcahs type 2|glycosylphosphatidylinositol biosynthesis defect 4|eiee20

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME TYPE 2

Top 5 symptoms//phenotypes associated to Macrocephaly and Gliosis

Symptoms // Phenotype % cases
Seizures Very Common - Between 80% and 100% cases
Global developmental delay Very Common - Between 80% and 100% cases
Generalized hypotonia Common - Between 50% and 80% cases
Abnormal facial shape Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Macrocephaly and Gliosis. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Spasticity

Uncommon Symptoms - Between 30% and 50% cases

Feeding difficulties Encephalopathy Ataxia Growth delay Nystagmus Peripheral demyelination Muscular hypotonia Abnormality of the cerebral white matter Hypoplasia of the corpus callosum Developmental regression Hypertelorism Cerebral atrophy Spastic tetraparesis Hyperreflexia Depressed nasal bridge Strabismus Motor delay Neuronal loss in central nervous system Encephalitis Leukoencephalopathy Tetraparesis Hepatomegaly Leukodystrophy Failure to thrive Frontal bossing Long philtrum Microcephaly Optic atrophy Vomiting Gait disturbance Ventriculomegaly Hydrocephalus Feeding difficulties in infancy Short nose Opisthotonus Cerebellar atrophy Hemiplegia Aciduria Depressivity Dysphagia Abnormality of eye movement Tremor Micrognathia Dilatation Corpus callosum atrophy Cardiorespiratory arrest Hearing impairment Large fontanelles High palate Coma Dementia Dysarthria Respiratory failure Delayed speech and language development Fever Muscle weakness Cognitive impairment

Rare Symptoms - Less than 30% cases

Abnormality of the liver Posteriorly rotated ears Agenesis of corpus callosum Cerebellar hypoplasia Upslanted palpebral fissure Polyhydramnios High forehead Retrognathia Molybdenum cofactor deficiency Neonatal hypotonia Elevated hepatic transaminase Irritability Hepatic steatosis Xanthine nephrolithiasis Renal cyst Heterotopia Epicanthus Congenital cataract Increased urinary hypoxanthine Visual impairment Flexion contracture Low-set ears Pachygyria Xanthinuria Muscular hypotonia of the trunk Pneumonia Polymicrogyria Headache Metabolic acidosis Exercise intolerance Neurological speech impairment Ketonuria Glutaric aciduria Hypouricemia Glutaric acidemia Short neck Stroke Respiratory tract infection Weight loss Hypoglycemia Acidosis Hyperhidrosis Myopathy Delayed myelination Edema Cardiomyopathy Osteopenia Hyperlordosis Nausea and vomiting Tetraplegia Clonus Drowsiness Cataract Congestive heart failure Cerebral palsy Wide anterior fontanel Small nail Short distal phalanx of finger Increased urinary taurine Respiratory insufficiency Myoclonic spasms Atrial septal defect EEG abnormality Lethargy Hypertonia Emotional lability Organic aciduria Atrophy/Degeneration affecting the brainstem Dysphasia Behavioral abnormality Severe global developmental delay Aplasia/Hypoplasia of the cerebellum Dystonia Myoclonus Gait ataxia Abnormal pyramidal sign Abnormal cerebellum morphology Muscle stiffness Abnormality of extrapyramidal motor function Deeply set eye Amenorrhea Long face Ectopia lentis Spastic tetraplegia Poor head control Diarrhea Thick vermilion border Axonal loss Full cheeks Lens luxation Episodic vomiting Medulloblastoma Proximal tubulopathy Ragged-red muscle fibers Hyperammonemia Pancreatitis Abnormal corpus callosum morphology Abnormality of the renal tubule Scapular winging Type I diabetes mellitus Mutism Acute pancreatitis Cardiac arrest Loss of ability to walk Polycystic kidney dysplasia Easy fatigability Acute kidney injury Excessive daytime somnolence Progressive proximal muscle weakness Ketosis Chronic fatigue Myoglobinuria Fatigable weakness Anorexia Rhabdomyolysis Slurred speech Glycosuria Difficulty climbing stairs Restrictive ventilatory defect Ventricular fibrillation Hypoketotic hypoglycemia Stridor Exercise-induced myalgia Back pain Decreased liver function Lactic acidosis Left ventricular hypertrophy Chylous ascites Arrhythmia Respiratory distress Fatigue Pain Generalized cerebral atrophy/hypoplasia Calcific stippling Fetal ascites Renal cortical microcysts Cerebral hypoplasia Elevated serum creatine phosphokinase Cerebral dysmyelination Enterocolitis Bile duct proliferation Undetectable electroretinogram Aspiration pneumonia Adrenal hypoplasia Scaphocephaly Primary adrenal insufficiency Cortical dysplasia Areflexia Dyspnea Renal dysplasia Nausea Abnormality of the genital system Cardiomegaly Waddling gait Increased serum lactate Generalized muscle weakness Muscle cramps Pulmonary hypoplasia Generalized aminoaciduria Joint hyperflexibility Arthralgia Limb muscle weakness Dilated cardiomyopathy Abnormality of the pinna Hypertrophic cardiomyopathy Telecanthus Myalgia Proximal muscle weakness Difficulty walking Jaundice Respiratory arrest Increased muscle lipid content Oliguria Hypsarrhythmia Deep philtrum Widely spaced teeth Multicystic kidney dysplasia Cerebral visual impairment Gingival overgrowth Tall stature Postnatal microcephaly Inflammatory abnormality of the skin Generalized-onset seizure Redundant skin Limb undergrowth Overgrowth Microdontia Epileptic encephalopathy Webbed neck Vesicoureteral reflux Sepsis Generalized myoclonic seizures Elevated alkaline phosphatase Scaling skin Downturned corners of mouth Breech presentation Birth length greater than 97th percentile Olfactory lobe agenesis Alveolar ridge overgrowth Triangular mouth Micronodular cirrhosis Duplicated collecting system Hemoglobinuria Seborrheic dermatitis Developmental stagnation Overfolded helix High anterior hairline Pierre-Robin sequence Epileptic spasms Central hypotonia Absent septum pellucidum Infantile spasms Prominent occiput Large for gestational age Hemolytic anemia Wide nose Progressive spastic quadriplegia Arthralgia of the hip Fatigable weakness of distal limb muscles Hypersarcosinemia Ethylmalonic aciduria Reye syndrome-like episodes Reduced protein C activity Elevated plasma acylcarnitine levels Ketotic hypoglycemia Delayed cranial suture closure Gastrointestinal inflammation Abnormality of branched chain family amino acid metabolism Narcolepsy Cataplexy Renal cortical cysts Limb tremor Impaired mastication Nonketotic hypoglycemia Hypoglycemic coma Personality disorder Fatigable weakness of neck muscles Defective dehydrogenation of isovaleryl CoA and butyryl CoA Hepatic failure Cerebral cortical atrophy Cirrhosis Ichthyosis Wide mouth Apnea Abnormality of the eye Coarse facial features Narrow mouth Micropenis Patent ductus arteriosus Hepatic periportal necrosis Obesity Absent speech Malar flattening Anteverted nares Anemia Cleft palate Abnormality of blood glucose concentration Electron transfer flavoprotein-ubiquinone oxidoreductase defect Thoracic hypoplasia Dolichocephaly Decreased muscle mass Intellectual disability, mild Vertigo Abnormality of movement Cessation of head growth Decreased circulating progesterone Paralysis Intellectual disability, severe Rigidity Prominent forehead Dyskinesia Truncal ataxia Horizontal nystagmus Intellectual disability, progressive Retinal nonattachment Adactyly Cutis marmorata telangiectatica congenita High-pitched cry Retrocerebellar cyst Inability to walk Spastic hemiparesis Aplasia cutis congenita of scalp Malnutrition Decreased plasma carnitine Dilation of lateral ventricles Abnormality of the retinal vasculature Cerebral ischemia Cerebral hypomyelination Generalized dystonia Malignant hyperthermia Bulbar palsy Spastic diplegia Rapid neurologic deterioration Intracranial hemorrhage Hyperkinesis Joint dislocation Primary gonadal insufficiency Diffuse leukoencephalopathy Choreoathetosis Dehydration Migraine Retinal fold Periventricular leukomalacia Acute encephalopathy Brain atrophy Abnormal heart morphology Severe demyelination of the white matter Microphthalmia Syndactyly Intrauterine growth retardation Brachydactyly Diffuse cerebral atrophy Aldehyde oxidase deficiency L-2-hydroxyglutaric acidemia Absent urinary urothione Decreased urinary urate Increased urinary thiosulfate Reduced xanthine dehydrogenase activity Increased urinary sulfite Decreased urinary sulfate Progressive microcephaly Sulfite oxidase deficiency Alopecia L-2-hydroxyglutaric aciduria Aplasia cutis congenita Oligohydramnios Short finger Cutis marmorata Dermal atrophy Narrow palpebral fissure Low anterior hairline Lymphedema Global brain atrophy Blue sclerae Wide intermamillary distance Ependymoma Single transverse palmar crease Short foot Retinal detachment Bulbous nose Morphological abnormality of the pyramidal tract Protruding ear Neoplasm of the nervous system Abnormality of the nervous system Fasting hypoglycemia Infantile encephalopathy Hammertoe Hyperpigmented nevi Hypospadias Progressive neurologic deterioration Talipes equinovarus Skeletal muscle atrophy Spastic gait Diffuse demyelination of the cerebral white matter Microcoria Recurrent singultus Visual loss Progressive macrocephaly Pseudobulbar signs Large face Hypersomnia Aqueductal stenosis Bulbar signs Hypothermia Megalencephaly Pectus excavatum Delayed skeletal maturation Increased CSF protein Abdominal distention Decreased nerve conduction velocity Progressive hearing impairment Aspiration Peripheral neuropathy Blindness Cholestasis Split hand Progressive visual loss Ascites Hemiparesis Mental deterioration Talipes Abnormal muscle tone Distal muscle weakness Unsteady gait Progressive cerebellar ataxia Memory impairment Primary amenorrhea Poor coordination Muscle fibrillation Retinal hemorrhage Hypertension Axonal degeneration Diabetes mellitus Constipation Hyporeflexia Kyphosis Secondary amenorrhea Progressive encephalopathy Hyperventilation Personality changes Ptosis Scoliosis Subdural hemorrhage Ketonemia Symmetrical progressive peripheral demyelination Macrocephaly at birth Delusions CNS demyelination Hypothyroidism Facial palsy Progressive spasticity Diplopia Bowel incontinence Oral-pharyngeal dysphagia Self-injurious behavior Precocious puberty Dysphonia Sleep apnea Abnormal autonomic nervous system physiology Paraparesis Cerebral calcification Premature ovarian insufficiency Hypotension Chorea Sudden cardiac death Spastic paraparesis Sleep disturbance Dysmetria CNS hypomyelination Cough Abnormality of the pons


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