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Craniosynostosis

Congenital Ossification of Sutures

Craniosynostosis, is a condition, characterized by premature closing of one or more cranial sutures between the bones of the baby’s skull. Such a kind of condition occurs, much before the brain develops fully.


Presentation

Craniosynostosis are of several types; which include sagittal synostosis, frontal plagiocephaly and metopic synostosis. Signs and symptoms of craniosynostosis include the following:

  • Shape of the head is unusual
  • Increase in intracranial pressure
  • Slow or no growth in the head size as the baby grows
  • Affected sutures have a raised and hard ridge
  • No fontanelle on the skull of newborn [8]
Multiple Congenital Anomalies
  • Noonan syndrome (NS) is a multiple congenital anomaly syndrome caused by germline mutations in genes coding for components of the Ras-mitogen-activated protein kinase (RAS-MAPK) pathway.[ncbi.nlm.nih.gov]
Precocious Puberty
  • Children with advanced bone age, nine due to virilizing adrenal hyperplasia and three with precocious puberty, had normal radiographic patterns of cranial suture closure.[ncbi.nlm.nih.gov]
Virilization
  • Children with advanced bone age, nine due to virilizing adrenal hyperplasia and three with precocious puberty, had normal radiographic patterns of cranial suture closure.[ncbi.nlm.nih.gov]
Pseudotumor
  • Karahalios DG, Rekate HL, Khayata MH, Apostolides PJ (1996) Elevated intracranial venous pressure as a universal mechanism in pseudotumor cerebri of varying etiologies. Neurology 46:198–202 PubMed Google Scholar 33.[doi.org]
Pleural Effusion
  • In retrospect, the propositus had physical features suggestive of a dysregulated RAS signaling cascade, such as fetal pleural effusion, fetal hydrops, and atrial tachycardia.[ncbi.nlm.nih.gov]
Thrombosis
  • The authors describe a case of ulnar artery thrombosis following ulnar arterial line placement in a patient who received TXA for cranial vault reconstructive surgery.[ncbi.nlm.nih.gov]
Tachycardia
  • In retrospect, the propositus had physical features suggestive of a dysregulated RAS signaling cascade, such as fetal pleural effusion, fetal hydrops, and atrial tachycardia.[ncbi.nlm.nih.gov]
Pruritus
  • We report a child with Alagille syndrome and craniosynostosis who presented with pruritus, elevated liver enzymes, and suspected increased intracranial pressure. Copyright 2013 Elsevier Inc. All rights reserved.[ncbi.nlm.nih.gov]
Cranial Asymmetry
  • The adverse effects associated with surgical correction of craniosynostosis include cerebrospinal fluid leak, injury to the brain, wound healing problems, cranial asymmetry, and the need for further surgery.[cancertherapyadvisor.com]
  • Since the early 1990s, US pediatricians have seen an increase in the number of children with cranial asymmetry, particularly unilateral flattening of the occiput, likely attributable to parents following the American Academy of Pediatrics “Back to Sleep[pediatrics.aappublications.org]
Advanced Bone Age
  • Children with advanced bone age, nine due to virilizing adrenal hyperplasia and three with precocious puberty, had normal radiographic patterns of cranial suture closure.[ncbi.nlm.nih.gov]
Short Humerus
  • Noncraniofacial features include hand and foot digital anomalies (Apert's, Pfeiffer's), cervical fusion anomalies (Apert's), short humerus and femur (Crouzon's); especially important is that syndactyly is an important feature of Apert's (acrocephalosyndactyly[doi.org]

Workup

The following tests are employed for diagnosing craniosynostosis:

  • Physical examination: A preliminary physical examination would be carried out to check for facial deformities and abnormalities in suture ridges.
  • Imaging studies: Imaging studies such as CT scan of the head will be carried out to check whether any sutures will be fused or not. In addition, x-rays would also be done to measure the dimension of the baby’s skull.
  • Genetic tests: This is done to identify the causative factor behind development of craniosynostosis. Such type of tests is done through blood tests to identify the type of genetic syndrome behind the condition. In many cases, hair, skin or other tissue of the baby may also be tested for any abnormality [9].
Pleural Effusion
  • In retrospect, the propositus had physical features suggestive of a dysregulated RAS signaling cascade, such as fetal pleural effusion, fetal hydrops, and atrial tachycardia.[ncbi.nlm.nih.gov]

Treatment

  • Mild cases of craniosynostosis, require no treatment and abnormalities in the shape of the head become less evident as the baby grows. Helmet therapy may be recommended in such cases that would help reshape the head and in turn provide space for development of baby’s brain [10]. In other cases, surgery is the only resort to correct the deformity. The various types of surgical procedures that are involved include the following:
  • Traditional surgery: In this type, an incision is made in the skull, and the affected portion is then reshaped with the help of plates and screws. In many cases, a second surgery may also be required, because there are chances of recurrence of craniosynostosis.
  • Endoscopic surgery: It is a less invasive form of surgery, but is not meant for all cases of craniosynostosis. An endoscope is inserted through small incisions made in the skull, and the sutures are opened to provide room for brain development [11].

Prognosis

Children with no other associated underlying conditions do well after surgical intervention. Prognosis of craniosynostosis depends on the number of sutures involved and overall health condition of the child [6].
In case, when other associated anomalies are involved then the head deformity can be permanent, even if treatment is not initiated on time. Failure to initiate treatment on time can cause development of seizures, intracranial pressure and developmental delay [7].

Etiology

The exact cause of craniosynostosis is unknown. However, the involvement of genes in the premature fusion of cranial sutures of the skull has been found to play foul [2]. Craniosynostosis is classified under 2 categories: nonsyndromic and syndromic. The cause of the former condition is unknown. In the latter type, genes and heredity are known to play foul. Genetic syndromes such as Crouzon syndrome, Apert syndrome and Pfeiffer syndrome are associated with abnormal skull development of the baby. In the year 1912, Crouzon was the first to describe heredity as the factor for development of craniosynostosis [3].

Epidemiology

Craniosynostosis is estimated to occur in 1 in every 2000 live births globally. Complex craniosynotosis, wherein more than 1 suture is affected, is prevalent in 5 – 15% of the population. Occurrence of Apert syndrome and Pfeiffer syndrome is rare; whereas incidence of Coruzon syndrome has been recorded to be 1 in every 2,500 live births. About 40 – 55% of cases of craniosynostosis, is of the form sagittal synostosis [4].

Sex distribution
Age distribution

Pathophysiology

Children with craniosynostosis, have abnormal osteoblactic activity along with increase osteocalcin levels, decrease in production of alkaline phosphatase and a decreased growth rate. In addition, affected children also have increases epidermal growth factor and platelet – derived growth factor.
New bone formation has been observed when resected sutures were histophatlogically examined. Such a phenomenon causes development of ridges in the affected area, which is palpable during clinical examination and is also evident during surgical procedure [5].

Prevention

So far, no guidelines have been given to prevent craniosynostosis. However, there are certain small pieces of information suggesting that women who took adequate quantities of riboflavin, vitamin E, C and B6 were at a low risk of developing such anomalies than those who did not. Studies have suggested that, maternal nutrition has significant association with development of structural abnormalities. In view of this fact, it can be safely concluded that, consuming a nutritionally rich diet during the first trimester of pregnancy, can prevent the fetus from craniosynostosis.

Summary

This leads to significant change in the growth pattern of the skull. Craniosynostosis, in many cases is associated with underlying anomalies which may cause improper development of the brain. One or more joints may be affected by this condition and surgery is the only option to correct such a condition. If there is no underlying disease condition, then after surgery, the brain can develop appropriately [1].

Patient Information

  • Definition: Craniosynostosis, is a condition, characterized by premature closing of sutures, which leads to improper shape of head. It is a birth defect, wherein the sutures close much before the brain gets fully developed. In this condition, one or more joints of the skull are affected.
  • Cause: In many cases, the exact cause of craniosynostosis is unknown. Presence of underlying disease conditions is thought to play foul in development of certain forms of craniosynostosis. Certain type of genetic syndromes such as Apert syndrome, Coruzon syndrome and Pfeiffer syndrome can significantly affect the development of baby’s skull.
  • Symptoms: Symptoms of craniosynostosis include development of unusual shape of head, slowed growth of head as the baby grows, increase in intracranial pressure and development of hard ridges in the affected area.
  • Diagnosis: A preliminary physical examination will be carried out to determine abnormalities such as suture ridges and facial deformities. In addition, imaging studies such as CT scan and x-rays will also be required to determine fused sutures. Genetic testing also forms an essential part of diagnosis and is done to analyze the presence of genetic syndromes if any.
  • Treatment: Mild cases of craniosynostosis seldom require any treatment if only one suture is involved and there are no underlying genetic abnormalities. In severe cases, surgery is the only available option to treat the condition.

References

Article

  1. Shillito J Jr, Matson DD. Craniosynostosis: a review of 519 surgical patients. Pediatrics 1968; 41:829.
  2. Delashaw JB, Persing JA, Jane JA. Cranial deformation in craniosynostosis. A new explanation. Neurosurg Clin N Am. Jul 1991;2(3):611-20.
  3. Jeong JH, Song JY, Kwon GY, Baek SH, Kim JC, Choi TH, et al. The results and complications of cranial bone reconstruction in patients with craniosynostosis. J Craniofac Surg. Jul 2013;24(4):1162-7
  4. Johnson D, Wilkie AO. Craniosynostosis. Eur J Hum Genet 2011; 19:369.
  5. Jabs EW. Toward understanding the pathogenesis of craniosynostosis through clinical and molecular correlates. Clin Genet. Feb 1998;53(2):79-86.
  6. Fearon JA, McLaughlin EB, Kolar JC. Sagittal craniosynostosis: surgical outcomes and long-term growth. Plast Reconstr Surg 2006; 117:532.
  7. Hoyte DA. The cranial base in normal and abnormal skull growth. Neurosurg Clin N Am. Jul 1991;2(3):515-37.
  8. Abramson DL, Janecka IP, Mulliken JB. Abnormalities of the cranial base in synostotic frontal plagiocephaly. J Craniofac Surg 1996; 7:426.
  9. Mouradian WE. Controversies in the diagnosis and management of craniosynostosis: a panel discussion. Cleft Palate Craniofac J 1998; 35:190.
  10. van Wijk RM, van Vlimmeren LA, Groothuis-Oudshoorn CG, et al. Helmet therapy in infants with positional skull deformation: randomised controlled trial. BMJ 2014; 348:g2741.
  11. Fearon JA, Ruotolo RA, Kolar JC. Single sutural craniosynostoses: surgical outcomes and long-term growth.Plast Reconstr Surg. Feb 2009;123(2):635-42.

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Last updated: 2019-07-11 21:43