Fetal macrocephaly: Pathophysiology, prenatal diagnosis and management.

Macrocephaly means a large head and is defined as a head circumference (HC) above the 98th percentile or greater than +2SD above the mean for gestational age. Macrocephaly can be primary and due to increased brain tissue (megalocephaly), which in most cases is familial and benign or secondary. The latter may be due to various causes, including but not limited to communicating or non-communicating hydrocephalus, cerebral edema, focal and pericerebral increased fluid collections, thickened calvarium and brain tumors. Megalocephaly can be syndromic or non-syndromic. In the former, gyral and structural CNS anomalies are common. It is important to exercise caution when considering a diagnosis of megalocephaly due to limitations in the accuracy of HC measurement, lack of nomograms for specific populations, inconsistencies between prenatal and postnatal HC growth curves and progression over time. The degree of macrocephaly is important, with mild macrocephaly ≤2.5SD carrying a good prognosis, especially when one of the parents has macrocephaly and normal development. Cases in which the patient history and/or physical exam are positive or when parental HC are normal are more worrisome and warrant a neurosonogram, fetal MRI and genetic testing to better delineate the underlying etiology and provide appropriate counseling.

Emergency department management of children with macrocephaly.

Although the cause of macrocephaly is found to be benign in many cases, the large differential diagnosis includes conditions that can be life-threatening. Prompt recognition and timely diagnosis can lead to a better prognosis in many cases. This issue summarizes the available literature on macrocephaly and provides recommendations for the evaluation, diagnosis, and appropriate disposition of children with macrocephaly in the acute setting. Developmental milestones, "red flags," and neurologic examination by age are reviewed to help narrow the differential diagnosis and identify underlying etiologies. Guidance is provided for which imaging studies are indicated, and recommendations are given for which children need transfer or admission.

Macrocephaly in the Primary Care Provider's Office.

Macrocephaly is commonly encountered in the primary care provider's office. It is defined as an occipitofrontal circumference that is greater than 2 standard deviations above the mean for the child's given age. Macrocephaly is a nonspecific clinical finding that may be benign or require further evaluation. An algorithmic approach is useful for aiding in the clinical decision-making process to determine if further evaluation with neuroimaging is warranted. Abnormal findings may signify a harmful underlying cause, requiring referral to a genetic specialist or neurosurgeon.

[Macrocephaly in childhood]. / Macrocefalia en la infancia.

In a wide spectrum of cases in childhood, macrocephaly does not carry a neurological risk, although a range of possibilities will have an impact on both the evolutionary and cognitive aspects of children. The previous happens in pathologies with progressive components, such as tumors or hydrocephalus, and in those cases in which the factor of the growth of the cephalic perimeter is given by structural components of the nervous system as it happens in megalocephaly. As in all other medical acts, the careful taking of the anamnesis, the appropriate neurological examination and the valuations of the neurodevelopment items can give a thorough orientation about the etiology and importance of the problem. The help of diagnostic aids as well as images will provide the other data to define the diagnosis and propose a treatment.

Arrested Hydrocephalus in Childhood: Case Series and Review of the Literature.

INTRODUCTION: Hydrocephalus can be progressive or spontaneously arrested. In arrested hydrocephalus, the balance between production and absorption of the cerebrospinal fluid is restored. Patients are mostly asymptomatic, and no surgical treatment is necessary for them. METHODS: We performed a two-center consecutive case series study, aimed at investigating the safety of nonsurgical management of hydrocephalus in selected pediatric patients. We retrospectively selected all consecutive patients, suspected to suffer from arrested hydrocephalus and referred to our two institutions between January 2011 and December 2013. Data on clinical and radiological follow-up were collected until June 2017. RESULTS: Five children diagnosed with arrested hydrocephalus were included in the study. All patients presented macrocephaly as the main presenting sign. Associated mild-to-moderate stable motor disorders were assessed in four out of five cases. Typical symptoms and signs associated with acute raised intracranial pressure were absent in all patients. Magnetic resonance imaging studies showed ventriculomegaly in all patients. A diagnosis of arrested hydrocephalus was made in all five cases based on stable clinical and radiological findings during the initial observation. Conservative management based on active surveillance was, therefore, proposed. During the follow-up period, we observed stable or improved conditions in four out of five patients, while the remaining patient presented progressive hydrocephalus. DISCUSSION: Making a distinction between arrested and progressive hydrocephalus is fundamental, because of the opposed appropriate management. Any newly discovered case of hydrocephalus, not characterized by clear signs of progressive hydrocephalus, should benefit from active surveillance before any definitive decision is taken.

Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha (PIK3CA)-related overgrowth spectrum: A brief report.

A patient with extensive multisystem overgrowth caused by a somatic gain of function PIK3CA-mutation is described. This case is an example of the clinical diversity of the PIK3CA-Related Overgrowth Spectrum (PROS) as the patient had overlapping features of Congenital Lipomatous Overgrowth Vascular malformations Epidermal nevi and Skeletal abnormalities (CLOVES) syndrome and Megalencephaly-Capillary malformation Polymicrogyria (MCAP) syndrome and underlines the utility of this umbrella term.

Macrocephaly Is Not a Predictor of Optic Pathway Glioma Development or Treatment in Neurofibromatosis Type 1.

Neurofibromatosis type 1 is a common neurogenetic disorder characterized by significant clinical variability. As such, numerous studies have focused on identifying clinical, radiographic, or molecular biomarkers that predict the occurrence or progression of specific clinical features in individuals with neurofibromatosis type 1. One of these clinical biomarkers, macrocephaly, has been proposed as a prognostic factor for optic pathway glioma development. In the current study, the authors demonstrate that macrocephaly is not associated with the development of these brain tumors or the need to institute treatment for clinical progression. These findings suggest that macrocephaly is not a robust biomarker of optic pathway glioma formation or progression in children with neurofibromatosis type 1.

Enfrentamiento de macrocefalia en niños / Management of macrocephaly in children

En la mayoría de los niños con macrocefalia no se encuentra una causagrave, sin embargo, deben considerarse en el diagnóstico etiológico cuadros tratables y/o progresivos como una hidrocefalia. Un análisis cuidadoso y ordenado de los datos obtenidos en anamnesis y examen físico/neurológico, y una adecuada valoración del desarrollo psicomotor permitirán definir las probables causas de la macrocefalia y exámenes complementarios, evitando realizar procedimientos innecesarios.

Although most children with macrocephaly do not have a serious cause, treatable or progressive disorders as hydrocephalus must be considered in the diagnostic workup. A careful and orderly analysis of data obtained from anamnesis and physical / neurological examination, and a proper assessment of psychomotor development will allow the definition of likely causes of macrocephaly and examinations to accomplish, avoiding performing unnecessary procedures.

Structural morphological characteristics and craniofacial development in macrocephaly-cutis marmorata telangiectatica congenita.

AIM: Macrocephaly-cutis marmorata telangiectatica congenita (M-CMTC) is a craniofacial defect secondary to macrosomia; a case is presented in order to increase knowledge of the related complications in particular with respect to craniofacial development. CASE REPORT: The authors report a case of M-CMTC evaluated from the genetic standpoint and that of craniofacial development. The aim was to analyse the patient's clinical development and to plan orthopaedic and surgical treatment, focused on detecting and correcting structural and/or functional maxillomandibular anomalies that are likely to worsen over time. As M-CMTC is a typical morphostructural anomaly found in many patients with macrosomia, increased knowledge of the problem and awareness of the related complications appeared useful so as to tackle them appropriately. Orthopaedic treatment partially corrected the asymmetry and reduced the structural discrepancy, avoiding or at least simplifying surgical treatment on completion of growth.