Macrocephaly, and Progressive neurologic deterioration

Diseases related with Macrocephaly and Progressive neurologic deterioration

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

Top matches:

Megalencephalic leukoencephalopathy with subcortical cysts-2A is an autosomal recessive neurodegenerative disorder characterized by infantile-onset macrocephaly and later onset of motor deterioration, with ataxia and spasticity, seizures, and cognitive decline of variable severity. Brain MRI shows typical white matter abnormalities, including swelling of the cerebral white matter and subcortical cysts, in all stages of the disease (summary by Lopez-Hernandez et al., 2011).Heterozygous mutations in the HEPACAM gene can cause a similar, but less severe disorder that shows improvement of MRI changes with age (MLC2B ).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Ataxia
  • Spasticity
  • Motor delay


SOURCES: OMIM MENDELIAN

More info about MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2A; MLC2A

Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a form of leukodystrophy that is characterized by infantile-onset macrocephaly, often with mild neurologic signs at presentation (such as mild motor delay), which worsen with time, leading to poor ambulation, falls, ataxia, spasticity, increasing seizures and cognitive decline. Brain magnetic resonance imaging reveals diffusely abnormal and mildly swollen white matter as well as subcortical cysts in the anterior temporal and frontoparietal regions.

MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS Is also known as mlc|megalencephaly-cystic leukodystrophy syndrome|van der knaap disease|vl|vacuolating megalencephalic leukoencephalopathy with subcortical cysts|van der knaap syndrome|lvm|megalencephalic leukodystrophy|leukoencephalopathy with swelling and cysts

Related symptoms:

  • Seizures
  • Ataxia
  • Spasticity
  • Delayed speech and language development
  • Motor delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS

Cobblestone lissencephaly without muscular or ocular involvement is a form of cobblestone lissencephaly characterized by a constellation of brain malformations which can either exist alone or in conjunction with minimal muscular and ocular abnormalities. The clinical features of the disease include severe developmental delay, increased head circumference, hydrocephalus and seizures.

COBBLESTONE LISSENCEPHALY WITHOUT MUSCULAR OR OCULAR INVOLVEMENT Is also known as lissencephaly type 2 without muscular or ocular involvement|lissencephaly type 2 without muscular or eye involvement|cobblestone lissencephaly without muscular or eye involvement

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about COBBLESTONE LISSENCEPHALY WITHOUT MUSCULAR OR OCULAR INVOLVEMENT

Other less relevant 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

3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY; MCC2D Is also known as 3-methylcrotonylglycinuria ii|mcc2 deficiency|methylcrotonylglycinuria, type ii

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive


SOURCES: OMIM MESH MENDELIAN

More info about 3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY; MCC2D

Sandhoff disease is a progressive neurodegenerative disorder characterized by an accumulation of GM2 gangliosides, particularly in neurons, and is clinically indistinguishable from Tay-Sachs disease (OMIM ).

SANDHOFF DISEASE, INFANTILE FORM Is also known as infantile gm2 gangliosidosis 0 variant|hexosaminidases a and b deficiency|hexosaminidases a and b deficiency, infantile form|gm2-gangliosidosis, type ii

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Ataxia
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about SANDHOFF DISEASE, INFANTILE FORM

Mucopolysaccharidosis II is a rare X-linked recessive disorder caused by deficiency of the lysosomal enzyme iduronate sulfatase, leading to progressive accumulation of glycosaminoglucans in nearly all cell types, tissues, and organs. Patients with MPS II excrete excessive amounts of chondroitin sulfate B (dermatan sulfate) and heparitin sulfate (heparan sulfate) in the urine (McKusick, 1972; Wraith et al., 2008).

MUCOPOLYSACCHARIDOSIS, TYPE II; MPS2 Is also known as hunter syndrome|sulfoiduronate sulfatase deficiency|sids deficiency|mps ii|ids deficiency|iduronate 2-sulfatase deficiency

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS, TYPE II; MPS2

Mucopolysaccharidosis type VI is an autosomal recessive lysosomal storage disorder resulting from a deficiency of arylsulfatase B. Clinical features and severity are variable, but usually include short stature, hepatosplenomegaly, dysostosis multiplex, stiff joints, corneal clouding, cardiac abnormalities, and facial dysmorphism. Intelligence is usually normal (Azevedo et al., 2004).

MUCOPOLYSACCHARIDOSIS, TYPE VI; MPS6 Is also known as maroteaux-lamy syndrome|mps vi|n-acetylgalactosamine-4-sulfatase deficiency|arsb deficiency|arylsulfatase b deficiency

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Abnormal facial shape
  • Flexion contracture


SOURCES: OMIM MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS, TYPE VI; MPS6

Multiple sulfatase deficiency (MSD) is a very rare and fatal lysosomal storage disease characterized by a clinical phenotype that combines the features of different sulfatase deficiencies (whether lysosomal or not) that can have neonatal (most severe), infantile (most common) and juvenile (rare) presentations with manifestations including hypotonia, coarse facial features, mild deafness, skeletal anomalies, ichthyosis, hepatomegaly, developmental delay, progressive neurologic deterioration and hydrocephalus.

MULTIPLE SULFATASE DEFICIENCY Is also known as sulfatidosis, juvenile, austin type|mucosulfatidosis|juvenile sulfatidosis, austin type|msd

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about MULTIPLE SULFATASE DEFICIENCY

Medium match FUCOSIDOSIS

Fucosidosis is an extremely rare lysosomal storage disorder characterized by a highly variable phenotype with common manifestations including neurologic deterioration, coarse facial features, growth retardation, and recurrent sinopulmonary infections, as well as seizures, visceromegaly, angiokeratoma and dysostosis.

FUCOSIDOSIS Is also known as alpha-l-fucosidase deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: ORPHANET MENDELIAN

More info about FUCOSIDOSIS

Top 5 symptoms//phenotypes associated to Macrocephaly and Progressive neurologic deterioration

Symptoms // Phenotype % cases
Seizures Very Common - Between 80% and 100% cases
Intellectual disability Common - Between 50% and 80% cases
Abnormality of the cerebral white matter Common - Between 50% and 80% cases
Hearing impairment Common - Between 50% and 80% cases
Coarse facial features Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Macrocephaly and Progressive neurologic deterioration. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Hepatomegaly Hyperreflexia Global developmental delay Cerebral atrophy Mental deterioration Spasticity Ataxia Delayed speech and language development Spastic tetraplegia Muscular hypotonia Hepatosplenomegaly Splenomegaly Macroglossia Hydrocephalus Leukoencephalopathy Progressive cerebellar ataxia Corneal opacity Dysostosis multiplex Neurodegeneration Flexion contracture Kyphosis Skeletal muscle atrophy Muscle weakness Abnormal facial shape Tetraplegia Coma Short stature Cerebellar atrophy Motor deterioration Ventriculomegaly Leukodystrophy Dysarthria Megalencephaly Generalized hypotonia Optic atrophy Gait disturbance

Rare Symptoms - Less than 30% cases

Tetraparesis Cerebral hypomyelination Decreased body weight Dysmetria Spastic gait Dysphagia Emotional lability Split hand Dolichocephaly Peripheral demyelination Retinopathy CNS demyelination Dystonia Apnea Umbilical hernia Rapid neurologic deterioration Prominent forehead Failure to thrive Inguinal hernia Dermatan sulfate excretion in urine Congestive heart failure Mucopolysacchariduria Cardiomyopathy Hypoplasia of the odontoid process Visual impairment Progressive psychomotor deterioration Cardiomegaly Abnormality of retinal pigmentation Recurrent respiratory infections Cataract Obstructive sleep apnea Abnormal heart valve morphology Myelopathy Intellectual disability, severe Hernia Sleep apnea Lethargy Hypothyroidism Cognitive impairment Abnormality of the skeletal system Peripheral neuropathy Joint stiffness Spastic tetraparesis Hemiplegia Blindness Retinal fold Depressed nasal bridge Vomiting Urinary glycosaminoglycan excretion Diarrhea Encephalopathy Dementia Cervical cord compression Developmental regression Diffuse swelling of cerebral white matter Motor delay Hyperhidrosis Microcephaly Nystagmus Broad ribs Flared iliac wings Constrictive median neuropathy Prominent sternum Cervical myelopathy Cervical instability Hypoplastic acetabulae Anterior wedging of L1 Anterior wedging of L2 Ovoid vertebral bodies Disproportionate short-trunk short stature Eye of the tiger anomaly of globus pallidus Hypoplastic iliac wing Thickened skin Respiratory distress Edema Glaucoma Genu valgum Hirsutism Waddling gait Hip dysplasia Lumbar hyperlordosis Aortic valve stenosis Thoracic kyphosis Opacification of the corneal stroma Accelerated skeletal maturation Epiphyseal dysplasia Metaphyseal widening Metaphyseal irregularity Spinal canal stenosis Aseptic necrosis Glycopeptiduria Recurrent upper respiratory tract infections Thick eyebrow Sensorineural hearing impairment Coxa valga Lipoatrophy Neurodevelopmental delay Decreased muscle mass Anhidrosis Chronic otitis media Abnormality of pelvic girdle bone morphology Abnormality of the nail Abnormality of central motor function Gingival overgrowth Telangiectasia Abnormal form of the vertebral bodies Abnormality of the cardiovascular system Highly arched eyebrow Dry skin Elevated sweat chloride Acrocyanosis Conductive hearing impairment Abnormality of the gallbladder Increased hepatic glycogen content Abnormality of the acetabulum Abnormality of mucopolysaccharide metabolism Abnormal globus pallidus morphology Angiokeratoma corporis diffusum Oligosacchariduria Angiokeratoma Visceromegaly Broad long bones Generalized hyperkeratosis Vascular skin abnormality Abnormality of the abdominal wall Vacuolated lymphocytes Abnormal cornea morphology Abnormal pyramidal sign Skeletal dysplasia High palate Flat face Abnormality of the periventricular white matter Lower limb hyperreflexia Broad hallux Coarse hair Broad thumb Anterior beaking of lumbar vertebrae Retinal degeneration Large forehead Ichthyosis Smooth philtrum Skin rash Neonatal hypotonia Tortuosity of conjunctival vessels Anteverted nares Increased CSF protein Developmental stagnation Kyphoscoliosis Abnormality of the dentition Hyperkeratosis Brachycephaly Osteoporosis Delayed skeletal maturation Recurrent infections Hypertonia Hypertelorism Broad hallux phalanx Growth delay Retrocerebellar cyst Hypoplastic vertebral bodies Abnormality of peripheral nerve conduction Periorbital edema Olivopontocerebellar atrophy Scoliosis Rod-cone dystrophy Retinoschisis Diffuse leukoencephalopathy Paraparesis Spastic paraparesis CNS hypomyelination Encephalitis Premature ovarian insufficiency Personality changes Axonal degeneration Secondary amenorrhea Progressive encephalopathy Hyperventilation Delusions Primary gonadal insufficiency Spastic hemiparesis Hemiparesis Cessation of head growth Decreased circulating progesterone Feeding difficulties Fatigue Myopathy Dilatation Depressivity Alopecia Acidosis Hypoglycemia Elevated hepatic transaminase Hepatic steatosis Muscle stiffness Primary amenorrhea Cyanosis Heterotopia Diffuse white matter abnormalities Intellectual disability, mild Abnormal muscle tone Diffuse spongiform leukoencephalopathy Cerebellar hypoplasia Muscular dystrophy Severe global developmental delay Spastic paraplegia Paraplegia Polymicrogyria Abnormal cerebellum morphology Encephalocele Absence seizures Amenorrhea Lissencephaly Hypoplasia of the brainstem Infantile spasms Occipital encephalocele Porencephalic cyst Type II lissencephaly Gray matter heterotopias Right hemiplegia Fever Distal muscle weakness Unsteady gait Gliosis Memory impairment Metabolic acidosis Dehydration Tracheobronchomalacia Recurrent otitis media Short neck Pes cavus Severe short stature Osteopenia Attention deficit hyperactivity disorder Delayed eruption of teeth Postural instability Asthma Pigmentary retinopathy Intellectual disability, profound Thick lower lip vermilion Hypertrichosis Hoarse voice Impaired thermal sensitivity Elbow flexion contracture Exercise intolerance Intellectual disability, progressive Aortic regurgitation Widely spaced teeth Corneal dystrophy Incoordination Mild short stature Scaphocephaly Papilledema Intestinal pseudo-obstruction Heparan sulfate excretion in urine Ptosis Abnormality of glycosphingolipid metabolism Hyperammonemia Acute hyperammonemia Opisthotonus Hypoventilation Ketoacidosis Ketonuria Organic aciduria Seborrheic dermatitis Decreased plasma carnitine Hyperglycinuria Neutrophilia Encephalomalacia Necrotizing encephalopathy Propionyl-CoA carboxylase deficiency Babinski sign Cherry red spot of the macula Cerebral cortical atrophy Respiratory tract infection Paralysis Urinary incontinence Psychosis Chronic diarrhea Hypohidrosis Fasciculations Impotence Orthostatic hypotension Episodic abdominal pain Supranuclear gaze palsy Upper motor neuron dysfunction Anterior beaking of thoracic vertebrae


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