In these patients, increased intracranial pressure may also be present. [ncbi.nlm.nih.gov]

• Epilepsy

  The concurrence of epilepsy in the same patient also suggests that PTEN, and the downstream signaling pathway, might deserve to be investigated in autism-epilepsy comorbidity. [ncbi.nlm.nih.gov]

  Petit Mal, Petit Mal Convulsion, Epilepsy, Minor, Minor Epilepsies, Minor Epilepsy, Pykno Epilepsy, Pykno-Epilepsies, Pykno-Epilepsy, Epilepsy, Absence [Disease/Finding], absence epilepsy, epilepsy absence, mal petit seizure, mal petit seizures, Seizure [fpnotebook.com]

• Swelling

  […] following: Benign familial macrocephaly (family tendency toward large head size) Canavan disease (condition that affects how the body breaks down and uses a protein called aspartic acid) Hydrocephalus (buildup of fluid inside the skull that leads to brain swelling [nlm.nih.gov]

  MRI is characterized by diffuse swelling and T2 hyperintensity of the white matter with characteristic subcortical cysts [67] (Fig. 9D). [ajronline.org]

  The NAA in a high concentration results in myelin vacuolization and astrocyte swelling. [ncbi.nlm.nih.gov]

• Pseudotumor

  In addition to hydrocephalus, causes for macrocephaly include true megalencephaly, subdural effusion, pseudotumor cerebri, and familial variant. [pediatricneurologybriefs.com]

  […] enlargement of the subarachnoid space (BESS or benign external hydrocephalus) (2.2%) Choroid plexus cyst (1.1%) Hydrocephalus – obstructive or communicating (8.9%) Increased blood Subdural hematoma Arteriovenous malformation Increased intracranial pressure Pseudotumor [pediatriceducation.org]

  Neurocutaneous disroders - Tuberous sclerosis, Sturge-weber syndrome, neurofibromatosis, Gorlin syndrome Autism spectrum disorder Other syndromes - Fragile X syndrome, Cowden syndrome, Sotos syndrome Increased intracranial pressure (ICP) CNS infections Pseudotumor [emedicine.medscape.com]

• Failure to Thrive

  She did not eat much during […] April 30, 2011 · PTENLife · No Comments Tags: Adenoidectomy, Bannayan Riley Ruvalcaba Syndrome, Congenital Nystagmus, Constipation, Early Intervention, Eye Issues, Failure to Thrive, Low Muscle Tone, Macrocephaly, PTEN [ptenlife.com]

  Costello syndrome is characterized by failure to thrive in infancy, short stature, developmental delay, coarse facial features, macrocephaly deep palmar and plantar creases, papillomata, cardiac abnormalities, and risk for tumors [Gripp et al., 2006b] [onlinelibrary.wiley.com]

• Confusion

  It should not be confused with megalocephaly or megacephaly which are often accompanied by developmental mental problems. Macrocephaly refers to a head that is statistically larger than others. [alphadictionary.com]

  […] hemorrhage caused by birth trauma, brittle teeth, and for some Type IIIs, basilar invagination—the second vertebra moves upward and cuts off the opening in the skull where the spinal cord passes through to the brain, causing dizziness, headache, periods of confusion [wordnik.com]

  There is some confusion in the literature regarding the classification of cystic anomalies of the posterior fossa. [ajronline.org]

  Evaluation will often reveal RHs as discussed above, and because the IEAFS can be confused for an SDH or the infant has bleeding into the IEAFS, this infant has the triad, and child abuse will often be diagnosed in such an infant. [journals.lww.com]

• Abnormal Gait

  Intellectual disabilities, syncope, hypoglycemia, seizures, apneic episodes, mood anomalies, abnormal gait, and general clumsiness may be present. There was considerable clinical variation among the six reported patients. [disorders.eyes.arizona.edu]

• Occipital Encephalocele

  We report the case of a male infant with Chiari malformation type I who presented with congenital hydrocephalus and occipital encephalocele that progressed to hydrocephalic macrocephaly with frontal skull defect, despite numerous cerebrospinal fluid diversion [ncbi.nlm.nih.gov]

Various surgical techniques of reduction cranioplasty for the treatment of these patients have been reported. [ncbi.nlm.nih.gov]

Depends on the cause Treatment of macrocephaly depends on the cause. Sometimes, no treatment is necessary. If the cause is an abnormality, such as hydrocephalus, treatment, including surgery, may be necessary. NOTE: This is the Consumer Version. [msdmanuals.com]

Treatment Treatment Options: No treatment has been reported. [disorders.eyes.arizona.edu]

Subependymal and subarachnoidal cysts may cause extraodinary displacements and compression of brain structures; nevertheless, the prognosis is rather optimistic, for the brain structure itself is generally not destroyed. [ncbi.nlm.nih.gov]

Prognosis For children with benign familial macrocephaly, the prognosis is excellent. These children usually do not have any complications and have normal intelligence. For other children with macrocephaly, the prognosis is dependent upon the cause. [healthofchildren.com]

The prognosis for Perlman syndrome is poor and it is associated with a high neonatal mortality. [dbpedia.org]

Prognosis: Familial macrocephaly: normal neurological development. Secondary macrocephaly: depends on underlying condition. Unilateral or bilateral megalencephaly: developmental delay and intractable seizures. [fetalmedicine.org]

These findings demonstrate the phenotypic heterogeneity of autism cases associated with macrocephaly and their genetic etiologies. [ncbi.nlm.nih.gov]

Certain conditions have both an underlying etiology and multiple body system manifestations due to the underlying etiology. [icd10coded.com]

The epidemiology, perinatal risk factors, and major neurologic comorbidity of 42 children with hydrocephalus were studied in a community-based clinic for children with neurodevelopmental disabilities at the Institute for Child Development, Tel Aviv, Israel [pediatricneurologybriefs.com]

ORPHA:137634 Synonym(s): - Prevalence: Inheritance: Autosomal dominant Age of onset: - ICD-10: Q87.3 OMIM: 613675 614192 UMLS: - MeSH: - GARD: - MedDRA: - Summary Epidemiology So far, it has been described in six families. [orpha.net]

Affiliations Department of Epidemiology, Erasmus MC, Rotterdam, the Netherlands. [dx.doi.org]

EEG-based endophenotypes could be useful to untangle the complexity of ASD, helping to establish anatomic or pathophysiologic subtypes of the disorder. [ncbi.nlm.nih.gov]

Soriano AL, Russell RG, Johnson D, Lago R, Sechter I, Morris JG Jr: Pathophysiology of Citrobacter diversus neonatal meningitis: Comparative studies in an infant mouse model. Infect Immun 1991;59:1352–1358. [karger.com]

Pathophysiology Macrocephaly can result from enlargement of the skull bones or an increase in the volume of the intracranial structures like cerebrospinal fluid, blood, or the brain parenchyma itself (megalencephaly). [emedicine.medscape.com]

The pathophysiology of propofol infusion syndrome: a simple name for a complex syndrome. Intensive Care Med 2003;29:1417-25. 37. Rossetti AO, Milligan TA, Vulliemoz S, Michaelides C, Bertschi M, Lee JW. [e-jnc.org]

Regular follow-up of the fetus may lead to early diagnosis of immature intracranial teratomas and prevent the mother from having further complications either due to intrauterine fetal death orpsychological trauma of giving birth to a heavily malformed [ncbi.nlm.nih.gov]

Her newborn screening results did not make it back in time to prevent the crisis, and no one at our local hospital was familiar with the disease. They did not know how to treat her. [ggc.org]

When there is a significant fluid buildup in the brain, which is called hydrocephalus, the underlying cause is likely to require treatment to prevent further problems. [medicalnewstoday.com]