Macrocephaly

A congenital abnormality in which the occipitofrontal circumference is greater than two standard deviations above the mean for a given age. It is associated with HYDROCEPHALUS; SUBDURAL EFFUSION; ARACHNOID CYSTS; or is part of a genetic condition (e.g., ALEXANDER DISEASE; SOTOS SYNDROME).

Also Known As:

Networked: 230 relevant articles (1 outcomes, 1 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Rickets (Rachitis)
2.	Alopecia (Baldness)
3.	Muscle Hypotonia (Hypotonia)
4.	Mental Retardation (Idiocy)
5.	Seizures (Seizure)

Experts

1.	van der Knaap, Marjo S: 5 articles (02/2015 - 05/2009)
2.	Schwartz, Charles E: 4 articles (02/2010 - 02/2007)
3.	Eng, Charis: 3 articles (03/2015 - 05/2011)
4.	Lanciotti, Angela: 3 articles (01/2015 - 05/2012)
5.	Ambrosini, Elena: 3 articles (01/2015 - 05/2012)
6.	Hennekam, Raoul C: 3 articles (08/2014 - 08/2010)
7.	Aiello, Chiara: 3 articles (09/2013 - 05/2012)
8.	Bertini, Enrico: 3 articles (09/2013 - 05/2012)
9.	Scheper, Gert C: 3 articles (04/2011 - 03/2010)
10.	Dutra-Filho, Carlos S: 3 articles (11/2010 - 08/2007)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Macrocephaly:

1.	Vitamin DFDA LinkGeneric 01/01/2010 - "A 4-year-old boy presented with rickets, alopecia and macrocephaly along with elevated serum levels of 1,25(OH)₂D₃ which was diagnostic of vitamin D-dependent rickets type II. The rickets responded to conventional doses of 1α-hydroxycholecalciferol together with oral calcium supplement and there was also improvement in the alopecia. "
2.	CalciumIBA 01/01/2010 - "A 4-year-old boy presented with rickets, alopecia and macrocephaly along with elevated serum levels of 1,25(OH)₂D₃ which was diagnostic of vitamin D-dependent rickets type II. The rickets responded to conventional doses of 1α-hydroxycholecalciferol together with oral calcium supplement and there was also improvement in the alopecia. "
3.	hydroxide ionIBA 01/01/2010 - "A 4-year-old boy presented with rickets, alopecia and macrocephaly along with elevated serum levels of 1,25(OH)₂D₃ which was diagnostic of vitamin D-dependent rickets type II. The rickets responded to conventional doses of 1α-hydroxycholecalciferol together with oral calcium supplement and there was also improvement in the alopecia. "
4.	HMG CoA lyase deficiencyIBA 07/01/1985 - "A 4-month-old infant with hypotonia and macrocephaly was diagnosed as having 3-hydroxy-3-methylglutaric aciduria, using gas chromatography and mass spectrometry and confirmatory enzyme studies. " 02/01/1982 - "3-hydroxy-3-methylglutaryl-CoA lyase deficiency in an infant with macrocephaly and mild metabolic acidosis." 07/01/2015 - "HMG-CoA lyase deficiency should be thought in the patients with hypoketotic hypoglycemia, hyperammonemia, elevated liver function tests, noncompaction left ventricle and characteristic white matter changes and in the differential diagnosis of macrocephaly." 07/01/2015 - "The authors report case of an 8-mo-old infant with HMG-CoA lyase deficiency, who presented with macrocephaly, left ventricular noncompaction, recurrent pulmonary infections, nonketotic hypoglycemia, seizure and metabolic acidosis. "
5.	Megalencephalic leukoencephalopathy with subcortical cystsIBA 04/08/2011 - "Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a leukodystrophy characterized by early-onset macrocephaly and delayed-onset neurological deterioration. " 04/01/2011 - "A child with macrocephaly: case report of a patient with megalencephalic leukoencephalopathy with subcortical cysts and a compound heterozygosity for two mutations in the MLC1 gene." 06/01/2010 - "Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is an autosomal recessive disease characterized by early infantile macrocephaly and delayed motor and cognitive deterioration. " 03/01/2010 - "Megalencephalic leukoencephalopathy with subcortical cysts is a rare leukodystrophy that is characterized by macrocephaly and a slowly progressive clinical course. " 03/01/2005 - "Megalencephalic leukoencephalopathy with subcortical cysts is a rare leukodystrophy characterized by macrocephaly and a slowly progressive clinical course marked by spasticity and cognitive decline. "
6.	Opitz-Kaveggia syndromeIBA 08/01/2007 - "The FG syndrome, also known as Opitz-Kaveggia syndrome, is an X-linked disorder characterized by developmental delay, congenital hypotonia, characteristic facial appearance, relative macrocephaly and anomalies affecting the genitourinary, gastrointestinal and musculoskeletal systems. " 08/27/1999 - "Based on over 50 reported cases, FG syndrome is associated with agenesis of the corpus callosum, minor facial anomalies (high, broad forehead with frontal cowlick, ocular hypertelorism, down-slanted palpebral fissures, and small cupped auricles), relative macrocephaly, broad thumbs and halluces, and prominent fetal fingertip pads. " 08/01/2005 - "The FG syndrome (FGS) is a common, heterogeneous group of clinically indistinguishable X-linked disorders comprising congenital hypotonia, macrocephaly, psychomotor delay, abnormalities in sensory integration, agenesis of corpus callosum, an unusual personality with behavior abnormalities, and disturbances of gastrointestinal function. " 06/01/1989 - "Manifestations similar to those seen in the FG syndrome include severe constipation, tall, broad foreheads, hypotonia, and cowlicks of the hair line, but no individual patient had all the features of the syndrome and none had macrocephaly. " 04/01/2007 - "Opitz-Kaveggia syndrome (also known as FG syndrome) is an X-linked disorder characterized by mental retardation, relative macrocephaly, hypotonia and constipation. "
7.	Megalencephaly cutis marmorata telangiectatica congenitaIBA 10/01/2010 - "There have been significant recent advances in the past several years in the field of neurocutaneous vascular syndromes, including the development of more stringent diagnostic criteria for PHACE syndrome, the renaming of macrocephaly-cutis marmorata telangiectatica congenita to macrocephaly-capillary malformation to accurately reflect the true nature of the syndrome, and discovery of new genetic mutations such as RASA-1. " 10/01/2009 - "The authors report a case of an infant girl with macrocephaly-cutis marmorata telangiectatica congenita (Macrocephaly-CMTC). " 03/01/2009 - "The misnomer "macrocephaly-cutis marmorata telangiectatica congenita syndrome": report of 12 new cases and support for revising the name to macrocephaly-capillary malformations." 12/15/2007 - "Accurately renaming macrocephaly-cutis marmorata telangiectatica congenita (M-CMTC) as macrocephaly-capillary malformation (M-CM)." 07/01/2002 - "Although he does not have macrocephaly, his clinical picture is compatible with the diagnosis of Macrocephaly-cutis marmorata telangiectatica congenita syndrome (M-CMTC). "
8.	2-HydroxyglutaricaciduriaIBA 03/01/2006 - "Biochemical investigations established the diagnosis of L-2-hydroxyglutaric aciduria which has to be kept in mind as a rare cause of macrocephaly." 01/01/1996 - "Macrocephaly as the presenting feature of L-2-hydroxyglutaric aciduria in a 5-month-old boy." 01/01/2013 - "In conclusion, in patients with progressive mental retardation, macrocephaly and cerebral findings, L-2-hydroxyglutaric aciduria should be considered in case of deep white matter and dentate nuclei involvement in MRI." 01/01/2013 - "In this report, we present an rare 8-year-old patient with a rare mental retardation, cerebellar findings, macrocephaly and typical brain MRI findings, who was subsequently diagnosed with L-2-hydroxyglutaric aciduria. " 04/01/2008 - "L-2-Hydroxyglutaric aciduria (L-2-HGA) is an autosomal recessive neurometabolic disorder characterized by psychomotor delay, ataxia, macrocephaly and typical neuroradiological findings of subcortical leucoencephalopathy. "
9.	Cutis marmorata telangiectatica congenitaIBA 01/01/1998 - "We present the clinical history and findings in 4 children and adolescents with the association of macrocephaly and cutis marmorata telangiectatica congenita (Macrocephaly-CMTC syndrome). " 10/01/1997 - "We describe nine children with a similar pattern of features including macrocephaly and cutis marmorata telangiectatica congenita. " 01/01/1988 - "One case of Cutis marmorata telangiectatica congenita (CMTC) is reported with cutaneous signs, corporal asymmetry, macrocephaly and cerebral vascular malformation. " 03/01/2009 - "The condition known as macrocephaly-cutis marmorata telangiectatica congenita syndrome (M-CMTC) is a rare congenital syndrome of unknown etiology characterized by macrocephaly and vascular lesions that have been described as either cutis marmorata or cutis marmorata telangiectatica congenita (CMTC). " 06/01/2004 - "Adams Oliver Syndrome and cutis marmorata telangiectatica congenital-macrocephaly syndrome are rare disorders that are associated with cutis marmorata telangiectatica congenita."
10.	AcidsIBA 02/01/2014 - "Patient inclusion criteria were macrocephaly, developmental delay, normal urinary organic acids, and brain imaging of diffuse cerebral white matter involvement. " 07/01/2003 - "We conclude that amino and organic acids in urine should be investigated in all children with progressive macrocephaly of unknown etiology to rule out glutaric aciduria type I." 01/01/1991 - "The characteristic clinical symptoms with macrocephaly and dystonia and the very typical pattern of organic acids in urine are a challenge for rapid diagnosis and therapy." 01/01/1991 - "In a male infant with macrocephaly and dystonic cerebral palsy glutaric aciduria type I was detected by analysis of urine for organic acids. " 07/01/1985 - "Examination of the urine for organic acids should be considered in infants with unexplained hypotonia and macrocephaly, especially if accompanied by abnormal biochemical indices."

Therapies and Procedures

1.	Sutures (Suture) 01/01/2014 - "On examination, clinical features of macrocephaly, separated sutures and 'sunsetting' of the eyes were noted. " 01/01/2012 - "She presented with a full fontanelle, splayed sutures, and macrocephaly. " 11/01/2002 - "It is characterised by macrocephaly with persistently open sutures, absent or hypoplastic clavicles, dental anomalies, and delayed ossification of the pubic bones. " 05/01/1984 - "These two groups of patients share several manifestations, including postnatal growth retardation; relative macrocephaly with widely separated sutures or large fontanelles; prominent forehead; highly arched palate; micrognathia; downward slant of the palpebral fissures; broad, flat nasal bridge; and apparently low-set, malformed ears. " 10/01/2014 - "There are even fewer cases of infants with long-standing hydrocephalus in whom macrocephaly progresses and is accompanied by skull defect due to malunion of suture lines despite long-term CSF diversion treatment. "
2.	Cesarean Section (Caesarean Section) 06/01/1996 - "Because of the pain, a cesarean section was indicated, and a stillborn weighing 2750g with macrocephaly was delivered. " 12/01/1977 - "We discuss a newborn delivered by elective cesarean section who had macrocephaly with severe anemia. " 02/01/2006 - "He was born via cesarean section because of macrocephaly and subsequently exhibited significant developmental delay in motor, language, and cognitive skills with mental retardation and epilepsy. " 01/01/1989 - "A diagnosis of a serious or lethal malformation allows the obstetrician to choose not to perform a cesarean section because of fetal distress or dystocia due to macrocephaly in such "doomed" fetuses. "
3.	Enteral Nutrition (Feeding, Tube) 07/01/2013 - "Macrocephaly with enlarged frontotemporal subarachnoid space was present in 4/6 patients diagnosed by newborn screening, all these patients required high energy intake, and in two cases, enteral feeding during the first year of life was needed. " 10/01/2013 - "Hypotonia and macrocephaly occurred in 4/5 (80%); 3/5 (60%) had polyhydramnios, increased birth weight or required use of a feeding tube. "
4.	Ventriculoperitoneal Shunt 01/01/2007 - "After fenestration of the arachnoid cyst, 12 of 21 patients (57%) presenting with nonspecific macrocephaly required placement of a cystoperitoneal or ventriculoperitoneal shunt, compared with 1 of 15 patients (7%) presenting with other symptoms (p value = 0.0039). "
5.	Extracorporeal Membrane Oxygenation (ECMO) 07/01/1994 - "Macrocephaly was noted in 24% of those treated with ECMO and in none of the conventional group. "