Causes of Megalencephaly

Causes of Megalencephaly (Diseases Database):

The follow list shows some of the possible medical causes of Megalencephaly that are listed by the Diseases Database:

• Toriello-Carey syndrome
• Neurofibromatosis type 1
• Riley-Smith syndrome
• Tay-Sachs disease
• Sotos syndrome
• Waisman-Laxova syndrome
• Alpha-L-iduronidase deficiency
• Proteus syndrome
• Epidermal naevus syndrome
• Dysosteosclerosis
• Robinow-Silverman-Smith syndrome
• Alexander disease
• Acrocephalopolysyndactyly type 2
• Alpha-mannosidase deficiency
• I-cell disease
• van der Knaap disease
• Multiple hamartoma syndrome
• Wiedemann-Rautenstrauch syndrome
• Diamond-Blackfan anemia
• Thanatophoric dwarfism
• Glutaric aciduria type 1
• Mucopolysaccharidosis VII
• Aspartoacylase deficiency
• Hydrocephalus
• Osteopathia striata with cranial sclerosis
• Craniofacial dysmorphism-polysyndactyly syndrome
• Hyperostosis corticalis deformans juvenilis
• Tuberous sclerosis
• Bifunctional peroxisomal enzyme deficiency
• Kenny-Caffey-Linarelli syndrome
• Cardiofaciocutaneous syndrome
• Opitz-Kaveggia syndrome
• Schinzel acrocallosal syndrome
• Sandhoff's disease

Megalencephaly Causes: Book Excerpts

• Differential Diagnosis - Macrocephaly
• Differential Diagnosis - Enlarged Anterior Fontanelle
• Principal Causes of Macrocephaly - Macrocephaly
• Principal Causes of Scrotal Enlargement - Scrotal Enlargement

Megalencephaly as a symptom:

Conditions listing Megalencephaly as a symptom may also be potential underlying causes of Megalencephaly. Our database lists the following as having Megalencephaly as a symptom of that condition:

• Acrosphenosyndactylia
• Apert syndrome
• Craniosynostosis Maroteaux Fonfria type
• Megalencephaly - polymicrogyria - post-axial polydactyly - hydrocephalus
• Thanatophoric dysplasia, type 1

What causes Megalencephaly?

Causes: Megalencephaly: Megalencephaly is thought to be related to a disturbance in the regulation of cell reproduction or proliferation. In normal development, neuron proliferation - the process in which nerve cells divide to form new generations of cells - is regulated so that the correct number of cells is formed in the proper place at the appropriate time. (Source: excerpt from NINDS Megalencephaly Information Page: NINDS)

Related information on causes of Megalencephaly:

As with all medical conditions, there may be many causal factors. Further relevant information on causes of Megalencephaly may be found in:

• Hidden causes of Megalencephaly

Causes of Megalencephaly: Online Medical Books

16 MEDICAL BOOKS ONLINE! Review excerpts from medical books online, free, without registration, for more information about the causes of Megalencephaly.

Macrocephaly: Differential Diagnosis
(In A Page: Pediatric Signs and Symptoms)

• Communicating hydrocephalus
  –Benign
  –Post-hemorrhage
  –Postinfectious
  –Choroid plexus papilloma
  –Vein of Galen aneurysm
• Noncommunicating hydrocephalus
  –Arnold-Chiari malformation
  –Aqueductal stenosis
  –Mass lesion
       –Primitive neuroectodermal tumor
       –Ependymoma
       –Astrocytoma
  –Abscess
  –Hemorrhage
       –Intraventricular
  –Subarachnoid
  • Increased brain size
    –Familial
    –Sotos syndrome
    –Neurofibromatosis type I (NF1)
    –Tuberous sclerosis (TS)
    –Incontinentia pigmenti
    –Globoid cell leukodystrophy (Krabbe)
    –Alexander disease
    –Canavan disease
    –Maple syrup urine disease
    –Tay-Sachs disease
    –Glutaric aciduria type II
    –Hurler syndrome
  • Increased bone
    –Anemia
    –Hyperphosphatemia
    –Rickets
    –Osteogenesis imperfecta
  • Neoplasm

» READ BOOK EXCERPT ONLINE »

Source: In A Page: Pediatric Signs and Symptoms, 2007

Enlarged Anterior Fontanelle: Differential Diagnosis
(In A Page: Pediatric Signs and Symptoms)

• Hypothyroidism
  –Primary congenital hypothyroidism occurs in 1/4,000 live births, more in females (2:1)
  –Ectopic thyroid gland is the most common etiology; may also be caused by thyroid dysgenesis, thyroid dyshormonogenesis, hypothalamic-pituitary hypothyroidism
  –Physical findings include prolonged jaundice, macroglossia, doughy skin, umbilical hernia, weak hoarse cry, hypotonia, poor feeding, sparse hair, dry skin, constipation, abdominal distension, poor growth, developmental delay, slow deep-tendon reflexes, broad flat nose
  –Acquired hypothyroidism is most commonly due to iodine deficiency or chronic autoimmune thyroiditis

• Increased intracranial pressure
  –Usually accompanied by increased head circumference
  –Hydrocephalus
  –Trauma
  –Acute CNS infections (meningitis or encephalitis)

• Skeletal dysplasias
  –Rickets
  –Achondroplasia
  –Osteogenesis imperfecta

• Genetic/chromosomal disorders
  –Down syndrome (trisomy 21): Associated with mental retardation, hypotonia, epicanthal folds, slanted palpebral fissures, small ears, Brushfield spots of iris, clinodactyly, single palmar crease, cardiac defects, brachycephaly, protruding tongue, short neck, large space between first and second toes
  –Apert syndrome
  –Trisomy 13
  –Trisomy 18
  –Silver-Russell syndrome
  –Cleidocranial dysostosis
  –Kenny syndrome

• Fetal hydantoin syndrome
• Intrauterine growth retardation
• Zellweger (cerebrohepatorenal) syndrome
• Hurler syndrome (type I mucopolysaccharidosis)

» READ BOOK EXCERPT ONLINE »

Source: In A Page: Pediatric Signs and Symptoms, 2007

Macrocephaly: Principal Causes of Macrocephaly
(The Diagnostic Approach to Symptoms and Signs in Pediatrics)

1. Hydrocephalus
2. Fluid collections
   1. Subperiosteal
   2. Subgaleal
   3. Subdural
      1. Benign enlargement of the extraaxialspaces of infancy (benign subdural effusions of infancy)
      2. Subdural hematoma
3. Increased skull thickness
   1. Chronicsevere anemia
   2. Cranioskeletal dysplasias
4. Megalencephaly
   1. Anatomic
      1. Benignfamilial macrocephaly
      2. Neurocutaneous disorders
      3. Megalencephaly with a neurologic disorder
      4. Other
   2. Metabolic

» READ BOOK EXCERPT ONLINE »

Source: The Diagnostic Approach to Symptoms and Signs in Pediatrics, 2006

Scrotal Enlargement: Principal Causes of Scrotal Enlargement
(The Diagnostic Approach to Symptoms and Signs in Pediatrics)

1. Painfulscrotal enlargement
   1. Testicular
      1. Torsion of the testis
      2. Orchitis
      3. Trauma
   2. Nontesticular
      1. Torsion of appendages of the testisand epididymis
      2. Epididymitis
      3. Incarcerated inguinal hernia
2. Nonpainful scrotal enlargement
   1. Testicular
      1. In uterotorsion
      2. Tumor
   2. Nontesticular
      1. Inguinal hernia
      2. Hydrocele
      3. Spermatocele
      4. Varicocele
      5. Henoch-Schönlein purpura
      6. Kawasaki disease
      7. Meconium peritonitis
      8. Tumors of the epididymis, spermaticcord, or scrotal wall
      9. Generalized edema

» READ BOOK EXCERPT ONLINE »

Source: The Diagnostic Approach to Symptoms and Signs in Pediatrics, 2006

 » Next page: Symptoms of Megalencephaly

Rate This Website

What do you think about the features of this website? Take our user survey and have your say:

Website User Survey

Medical Tools & Articles:

Next articles:

• Symptoms of Megalencephaly
• Diagnostic Tests for Megalencephaly
• Diagnosis of Megalencephaly
• Signs of Megalencephaly
• Misdiagnosis of Megalencephaly

Tools & Services:

• Bookmark this page
• Take a survey relating to Megalencephaly
• Symptom Search
• Symptom Checker
• Medical Dictionary
• Give your feedback

Medical Articles:

• Disease & Treatments Search
• Misdiagnosis Center
• Full list of interesting articles

Forums & Message Boards

• Ask or answer a question at the Boards:
• I cannot get a diagnosis. Please help.
• Tell us your medical story.
• Share your misdiagnosis story.
• What is the best treatment for my condition?
• See all the Boards.

Enter your search terms Submit search form
Search The Web Search wrongdiagnosis.com

Common Health Mistakes

Symptom
Checker

Search Specialists by State and City