LETTER TO EDITOR
|Ahead of print
Kleeblattschädel with Luckenschadel skull
Kavin Devani, Anup Purandare, Ravi Wankhede, Sagar Gavli, Nilesh More, Batuk Diyora
Department of Neurosurgery, LTMG Hospital & LTM Medical College, Sion West, Mumbai, Maharashtra, India
|Date of Submission||02-Jan-2022|
|Date of Decision||24-Jan-2022|
|Date of Acceptance||12-Mar-2022|
|Date of Web Publication||30-Jan-2023|
Department of Neurosurgery, LTMG Hospital & LTM Medical College, Sion West, Mumbai 400022, Maharashtra
Source of Support: None, Conflict of Interest: None
Craniosynostosis is a disorder in which one or more of the fibrous sutures in a child ossify prematurely, leading to an abnormal skull shape. Its incidence is one in 2500 live births. Kleeblattschädel (German: kleeblatt = cloverleaf; schädel = skull, cranium) is a consequence of combined sagittal, coronal, and lambdoid synostoses. The cloverleaf skull is associated with bulging temporal regions and proptosis. Luckenschadel skull, a.k.a. craniolacunae or lacunar skull, is an ossification disorder characterized by the dysplasia of the membranous skull vault giving a fenestrated appearance of the skull. It is often associated with congenital malformations, leading to increased intracranial pressure such as Chiari malformation and neural tube defects such as meningomyelocele. The incidence of patients with Kleeblattschädel is not known owing to its extreme rarity. Kleeblattschädel deformities are usually associated with the mutations in the FGFR3 gene, a part of tyrosine kinase receptor family, which has been mapped to chromosome band 4p16.3 and is involved in the development and maintenance of bone and brain tissue. Such mutations often show autosomal-dominant pattern of inheritance. Germline mosaicism, though not clearly documented, remains a theoretical possibility in their pathogenesis.
A 4-month-old female child, a product of nonconsanguineous marriage, with term delivery, requiring Neonatal Intensive Care Unit stay for 7 days postdelivery for respiratory distress, presents with an abnormal head shape. The mother had not taken any antenatal nutrition supplements and had not undergone any prenatal anomaly scan. She had recovered from her initial ICU stay and was normal after that. She was accepting feeds and playful. She had developed adequate neck holding at 2.5 months of age. However, her parents noticed the abnormal shape of her head, for which they consulted us. Her head circumference was 32 cm. She had no papilloedema. She had a tower-shaped skull that was severely deformed. Dysmorphic faces were noted in the form of the mildly hypoplastic mandible with an obtuse angle, hypoplastic maxilla with crowded dentition, and shallow bilateral orbits with resultant proptosis. She had mild proptosis [[Figure 1]A and B]. X-ray skull anteroposterior (AP) and lateral view revealed “copper beaten” appearance, a sign of increased intracranial pressure, due to the pressure of the growing brain on the synostosed skull bone [[Figure 1]C and D]. Parents refused any surgical intervention.
|Figure 1: A, Clinical photograph showing severely deformed tower-shaped skull front and B, lateral view. C, X-ray evidence of tower-shaped skull with AP, and D, lateral view with “copper beaten” appearance, a sign of increased intracranial pressure and due to the pressure of the growing brain on the synostosed skull bone|
Click here to view
Computed tomography (CT) scan of brain and midface was performed, suggestive of premature fusion of the posterior sagittal sutures and lambdoid sutures bilaterally, associated with widening of the left coronal and bilateral squamous sutures. Multiple round, oval, or finger-shaped pits on the vault’s surface are separated by ridges of bone in the right frontal, parietal, and upper occipital bones, suggestive of lacunar or Luckenschadel skull [[Figure 2]A–D]. She had a high-riding third ventricle with corpus callosum agenesis. She had a small posterior fossa with a shallow fourth ventricle and mildly atrophic cerebellum with crowding at foramen magnum, with aqueduct stenosis with a mild dilatation of bilateral temporal horns [[Figure 3]A–D].
|Figure 2: A–D, CT scan head with 3D bone reconstruction showing the premature fusion of the posterior sagittal sutures and lambdoid sutures bilaterally, associated with widening of the left coronal and bilateral squamous sutures. Multiple round, oval, or finger-shaped pits on the vault’s surface are separated by ridges of bones in the right frontal, parietal, and upper occipital bones, suggestive of lacunar or Luckenschadel skull|
Click here to view
|Figure 3: A, CT scan brain parenchymal window showing corpus callosum agenesis, B, small posterior fossa with crowding at foramen magnum, C, with the dilatation of bilateral temporal horns with shallow fourth ventricle, D|
Click here to view
The child later was presented at 15 months of age with increased deformity of the skull, increased proptosis, and multiple episodes of vomiting in a highly moribund condition. Her head circumference was 34 cm. She had grade 4 papilloedema. She succumbed on the very next day. This reiterates that early intervention in patients with craniosynostosis is warranted as the children often have raised intracranial pressure.
The neurological sequelae from such a deformity results from hydrocephalus, hindbrain herniation, and venous hypertension.[4 Hydrocephalus is an invariable association of these deformities. It is thought to result from the basilar deformities],[ viz.],[ basilar invagination],[ aqueductal stenosis],[ compression by a midline occipital bone crest],[ and posterior fossa deformities that cause fourth ventricular obstruction],[ thus causing obstructive hydrocephalus. However, cases with communicating hydrocephalus are also reported. Venous hypertension is postulated to develop because of enlarged emissary veins, stenosis of the jugular foramina, and the presence of high-pressure, intraosseous, cranial venous sinuses communicating with a collateral scalp venous system. The presence of multiple cranial synostoses leads to higher chances of development of venous hypertension. Intracranial obstruction to the growing brain can reroute the venous supply to the scalp veins, which can lead to dilated and prominent scalp veins along with venous hemorrhagic infarcts. Prominent veins in the sclera and periorbital region can cause proptosis and corneal ulceration secondary to it. Venous hypertension can also contribute to the development of hydrocephalus, and both together along with small posterior fossa can lead to hindbrain herniation.
Treatment is usually aimed at reducing the intracranial pressure by giving space to the brain to grow. Such surgeries have an umbrella term of cranial expansion surgery. The standard surgical techniques employed for craniosynostosis are “strip craniectomy,” which involves the selective removal of the fused suture, “barrel-stave osteotomies,” which involve the expansion of the vault by creating multiple parallel osteotomies and other reconstructive and advancement techniques. For patients with turricephaly, some initially recommended only decompression surgery. However, it is associated with poor cosmetic results. Bifrontal decompression with fronto-orbital advancement is the management of choice., Surgery is advised as soon as the condition is diagnosed. The delay in the surgical intervention can be life-threatening and cause permanent deficits such as reduced vision, delayed milestones, and intellectual deficits.
Declaration of patient consent
The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.
Financial support and sponsorship
Conflicts of interest
There are no conflicts of interest.
| References|| |
Greenwood J, Flodman P, Osann K, Boyadjiev SA, Kimonis V. Familial incidence and associated symptoms in a population of individuals with nonsyndromic craniosynostosis. Genet Med 2014;16:302-10.
Khanna PC, Thapa MM, Iyer RS, Prasad SS. Pictorial essay: the many faces of craniosynostosis. Indian J Radiol Imaging 2011;21:49-56.
] [Full text]
Krishnan P, De R, Mishra R, Jena M. A rare case of lacunar skull with craniosynostosis. Neurol India 2012;60:669-70.
] [Full text]
Manjila S, Chim H, Eisele S, Chowdhry SA, Gosain AK, Cohen AR. History of the Kleeblattschädel deformity: origin of concepts and evolution of management in the past 50 years. Neurosurg Focus 2010;29:E7.
Thompson DNP, Hayward RD, Harkness WJ, Bingham RM, Jones BM. Lessons from a case of Kleeblattschädel. Case report. J Neurosurg 1995;82:1071-4.
Balasubramaniam C. Oxycephaly. In: Gupta D, Mahapatra A, editors. Tenets of Craniosynostosis, Surgical Principles and Advanced Multidisciplinary Care. Delhi: Thieme; 2018. p. 89-96.
Kedia S, Gupta D. Fronto-orbital advancements: Principle and techniques. In: Gupta D, Mahapatra A, editors. Tenets of Craniosynostosis, Surgical Principles and Advanced Multidisciplinary Care. Delhi: Thieme; 2018. p. 101-10.
[Figure 1], [Figure 2], [Figure 3]