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Microcephaly: A Rare Neurological Condition

Microcephaly: A Rare Neurological Condition
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infant small head

Microcephaly is a very rare neurological condition that causes the brain to be underdeveloped in the womb. This leads to an infant being born with a smaller than average head. While typically present at birth, microcephaly can develop and progress shortly after birth. Patients born with microcephaly have a poor long-term prognosis and often suffer with severe mental deficits.

What Causes Microcephaly?

The following conditions can lead to an infant being born with microcephaly or developing it shortly after birth:

  • Poland syndrome
  • Down syndrome
  • Edward syndrome
  • Patau syndrome
  • Unbalanced rearrangements
  • 4p deletion (Wolf–Hirschhorn syndrome)
  • 5p deletion (Cri-du-chat)
  • 7q11.23 deletion (Williams syndrome)
  • 22q11 deletion (DiGeorge syndrome)
  • Smith–Lemli–Opitz syndrome
  • Seckel syndrome
  • Cornelia de Lange syndrome
  • Holoprosencephaly
  • Primary microcephaly
  • Wiedemann-Steiner syndrome
  • Ischemic stroke
  • Hemorrhagic stroke
  • Death of a monozygotic twin
  • Vertically transmitted infections
  • Congenital cytomegalovirus infection
  • Toxoplasmosis
  • Congenital rubella syndrome
  • Zika virus
  • Drugs
  • Fetal hydantoin syndrome
  • Fetal alcohol syndrome
  • Radiation exposure to mother
  • Maternal malnutrition
  • Maternal phenylketonuria
  • Poorly controlled gestational diabetes
  • Hyperthermia
  • Maternal hypothyroidism
  • Placental insufficiency
  • Inborn errors of metabolism
  • Congenital disorder of glycosylation
  • Mitochondrial disorders
  • Peroxisomal disorder
  • Glucose transporter defect
  • Menkes disease
  • Congenital disorders of amino acid metabolism
  • Organic acidemia
  • Syndromes
  • Contiguous gene deletion
  • 17p13.3 deletion (Miller–Dieker syndrome)
  • Single gene defects
  • Rett syndrome (primarily girls)
  • Nijmegen breakage syndrome
  • X-linked lissencephaly with abnormal genitalia
  • Aicardi–Goutières syndrome
  • Ataxia telangiectasia
  • Cohen syndrome
  • Cockayne syndrome
  • Disruptive injuries
  • Traumatic brain injury
  • Hypoxic-ischemic encephalopathy
  • Ischemic stroke
  • Hemorrhagic stroke
  • Infections
  • Congenital HIV encephalopathy
  • Meningitis
  • Encephalitis
  • Toxins
  • Lead poisoning
  • Chronic renal failure
  • Deprivation
  • Hypothyroidism
  • Anemia
  • Congenital heart disease
  • Malnutrition

Types Of Microcephaly

Primary Microcephaly

This type of microcephaly begins in the womb, meaning the brain stops developing while still in utero.

Secondary Microcephaly

This type of microcephaly begins shortly after birth, meaning the brain stops developing after the baby is born. This is typically due to an underlying condition or trauma.

Microcephaly Symptoms

  • Seizures
  • Convulsions
  • Severe neurological defects
  • Difficulty with motor functions
  • Low body weight
  • Dwarfism
  • Smaller than average head
  • Receding forehead
  • Wrinkled scalp
  • Spastic quadripalegia

smaller than average head

Diagnosing Microcephaly

In some instances, microcephaly can be diagnosed while still in utero, during a prenatal ultrasound. In other instances, microcephaly is visibly apparent after birth. In cases of suspected microcephaly, a pediatrician will refer the patient to a pediatric neurologist for confirmation and diagnostic imaging, such as a brain MRI.

Treating Microcephaly

There is no cure for microcephaly, but medications can help with seizures and convulsions that are attributed to the condition. The prognosis for infants with microcephaly is very poor, with most patients not living past childhood or adolescence.

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