Open Fontanelle Research Articles

Orthognathic surgery in pycnodysostosis: a case report

Pycnodysostosis is an extremely rare genetic osteosclerosis caused by cathepsin K deficiency. It is a human autosomal recessive genetic disorder characterized mainly by osteosclerosis of the skeleton due to decreased bone turnover. It is characterized by short stature, brachycephaly, short and stubby fingers, open cranial sutures and fontanelle, and diffuse osteosclerosis. Multiple fractures of the long bones and osteomyelitis of the jaw are frequent complications. The authors describe an 18-year-old girl with a clinical and radiological diagnosis of pycnodysostosis and the ortho-surgical treatment undertaken. Bimaxillary orthognathic surgery was carried out using rigid fixation and bone grafts. The authors recommend bimaxillary orthognathic surgery as a choice for treating the dentofacial deformities of pycnodysostosis, emphasizing the good and stable results obtained in terms of facial aesthetics and occlusion.

Cleidocranial Dysplasia: A Case Report

Cleidocranial dysplasia (CCD) is a rare autosomal dominant skeletal disease. CCD is caused by mutation in the gene on 6p21 encoding transcription factor CBFA1, i.e. runt−related transcription factor 2(RUNX2). The disease is characterized by a persistently open anterior fontanelle and skull sutures, hypoplastic or aplastic clavicles, dental abnormalities, short stature, a wide pubic symphysis, and a variety of other skeletal changes. A major finding of CCD is hypoplasia or aplasia of clavicular bones resulting in the ability of the patient to approximate the shoulders. Delayed closure of the anterior fontanelle and of metopic sutures causes frontal bossing. We report a case of CCD in a 3.5−yearold boy who referred to our clinic because of an unclosed anterior fontanelle and emphasize the importance of clinical findings in CCD.Conflict of interest:None declared.

Craniosynostosis: A rare complication of pycnodysostosis

Uncommon features of rare genetic disorders are often poorly known, as the likelihood of having them reported is low. We describe a 7-year-old boy with clinical and radiological diagnosis of pycnodysostosis, and c.436G>C (p.G146R) mutation in CSTK). He developed intracranial hypertension that required surgical decompression. Despite patent fontanels, the cause of the intracranial hypertension was identified to be a combination of coronal and metopic craniosynostoses. Intracranial hypertension and craniosynostosis have only been reported once in pycnodysostosis, which is on the contrary characterized by delayed closure of the sutures and persistence of open fontanels. Our observation confirms that intracranial hypertension represents a rare but life-threatening complication of pycnodysostosis. We strongly suggest including systematic examination of fundus oculi and monitoring of OFC in the systematic clinical follow-up of these patients.

Index of Suspicion in the Nursery

A male infant is born at term to a 34-year-old gravida 1 Middle Eastern woman. Prenatal laboratory evaluation documented blood type O-positive, antibody screen-negative, rapid plasma reagin-nonreactive, rubella-immune, human immunodeficiency virus-negative, and group B beta-hemolytic Streptococcus -negative. The woman had undergone in vitro fertilization for the pregnancy. The woman presented in labor with the fetus in breech presentation. During delivery by cesarean section, the infant was noted to be footling breech, and extraction was difficult. Resuscitation was minimal, with warming and drying only. Apgar scores were 9 at 1 and 5 minutes. Physical examination in the delivery room revealed no unusual findings, and the baby was sent to the well baby nursery. The birthweight was 4,062 g. Six hours after his birth, the nurse notes that the infant has bilateral swollen thighs, with the left significantly more swollen than the right. On further evaluation, the infant's right thigh is minimally swollen around an intramuscular injection site without any color change. However, his left thigh has circumferential swelling with mild ecchymosis, taut overlying skin, and edema extending distally past the knee to the lower leg. His temperature is 36.9°C, heart rate is 130 beats/min, respiratory rate is 56 breaths/min, and blood pressure is 73/42 mm Hg. Physical examination reveals a comfortably sleeping infant, who has …

Application of ventriculoperitoneal shunt placement through fontanelle in a hydrocephalus dog: a case report

A two and a half year old Chihuahua intact male dog weighing 1.7 kg was referred to our Animal Medical Centre presenting with ataxia, seizure, nystagmus, tremor, and tilt. Additionally, it was not able to stand and sit. Physical examination, palpation, neurology examination, complete blood count (CBC), serum chemistry test, radiographs (X-ray), ultrasonography (US), and magnetic resonance imaging (MRI) were all performed. Open fontanelle, domeshaped calvarium, a thinning of bone structure, and asymmetrically enlarged lateral ventricles on the right were found on diagnostic imaging. Accordingly, the dog was diagnosed with hydrocephalus. A VP shunt placement was performed as surgical treatment. The ventricular catheter was placed into the right lateral ventricle through the fontanelle insertion site and the distal catheter was placed in the abdomen using the percutaneous technique. After surgery, anorexia, seizure, tremor, and nystagmus disappeared. Also, the dog could stand and walk without support; however, gait was slow and not completely normal and the tilt remained.

Petty–Laxova–Wiedemann progeroid syndrome: Further phenotypical delineation and confirmation of a rare syndrome of premature aging

A 10-year-old boy with manifestations of Petty-Laxova-Wiedemann progeroid syndrome (PLWPS), a rare neonatal progeroid condition, is described and compared with those previously reported. Clinical manifestation include: severe pre- and postnatal growth retardation, "progeroid" face, large open fontanelle in infancy, umbilical hernia at birth, pseudomacrocephaly, wide calvaria, sparse scalp hair, markedly diminished subcutaneous fat, scoliosis, partial cutaneous syndactyly, aplastic and hypoplastic distal phalanges with aplasia and hypoplasia of nails, undescended testes, and normal cognitive and motor development. This appears to be one of only a handful of cases of PLWPS reported in an older child or adult.

Index of Suspicion in the Nursery

A female neonate born at 38 weeks’ gestation presents to the emergency department on the eighth day after birth with a 2-day history of seizures. Two days ago, she began to have episodes of rightward eye deviation and shaking and stiffness of the right arm and leg. According to her parents, the episodes always occur while the neonate is awake, and she cries just prior to them. The spells typically last less than 15 seconds and are followed by heavy sleeping. Other than these spells, the neonate is acting normally and feeding appropriately, has remained afebrile, and her parents note no other complaints. The infant was born via a normal, spontaneous vaginal delivery to a 27-year-old multiparous woman. The pregnancy was complicated by diabetes mellitus, requiring glyburide therapy. Maternal screening test results included O-negative blood type; rubella-immune; and negative screening for syphilis, hepatitis B surface antigen, and group B streptococcal culture. The mother denies any history of herpes simplex viral infection. The neonate's delivery occurred less than 12 hours after rupture of membranes and meconium was present, but the infant was vigorous and required only routine resuscitation. Apgar scores were 9 and 9 at 1 and 5 minutes, respectively. The neonate's hospital stay was unremarkable, and she was discharged on the second day after birth. On evaluation in the emergency department, the infant weighs 3,550 g (50th percentile) and has a temperature of 99.1°F (37.2°C), heart rate of 130 beats/min, respiratory rate of 40 breaths/min, and oxygen saturation of 98%. Physical examination reveals a normal-appearing neonate who has no evidence of trauma and exhibits appropriate behavior and activity. Head examination shows normal findings, with open and flat fontanelles and normal retinal examination findings. Results of the cardiovascular, pulmonary, and abdominal examinations are normal. The neurologic examination reveals no abnormal movements, …

Double Trisomy 48,XXY,+21 in a Child With Phenotypic Features of Down Syndrome

Patient One-month-old male infant History of Present Illness The infant presented with dysmorphic features suggestive of Down syndrome and was referred for chromosomal analysis. Family History Patient was the fourth child of a consanguineous marriage and a product of normal gestation (39 weeks) and delivery. The mother’s and father’s ages were 43 and 45, respectively. The couple has 3 healthy sons. Physical Examination The proband delivered with body weight of 2.83 kg and length of 48 cm. He showed widely open fontanelle, microcephaly, flat occiput, slanting palpebral fissures, low set and malformed ears, protruding tongue, open mouth, hypotonia, short broad hand, clinodactyly, gap between first and second toes, and plantar furrow—all typical features of Down syndrome. The child was born also with cryptorchidism but normal penis size. Laboratory Findings Chromosomal analysis of proband revealed 48,XXY,+21 by karotyping and FISH technique ( Figures 1 and 2 ) with no evidence of mosaicism. Parental karyotypes were normal. 1. What are this patient’s most striking clinical and laboratory findings? 2. What is the frequency of double aneuploidy according to the literature? 3. What is the etiology and molecular basis of this patient’s syndrome? 4. What are the benefits in presenting such a case study? 1. A 1-month-old male infant with dysmorphic features suggestive of Down syndrome was referred for chromosomal analysis. This case …

Lessons from a case of osteopetrosis oxycephaly and Chiari type I malformation: a case report

We report a child with osteopetrosis, oxycephaly and Chiari type I malformation who presented with raised intracranial pressure. During cranial expansion surgery the patient developed sudden cardiac arrest which we believe was probably related to the Chiari malformation. The case highlights a previously unrecognized association between osteopetrosis, craniosynostosis and a persistently open fontanelle at age 4 years. In addition it supports the existing literature in emphasizing the need for careful preoperative work up, choice of approach and operative technique in children with complex craniosynostosis and Chiari malformation.

Minicraniotomy for endoscopic third ventriculostomy in babes: technical note with a 7-year-segment analysis

An alternative approach to the burr hole technique for endoscopic third ventriculostomy (ETV) in babes, the minicraniotomy, is described. It is easily performed and allows to close the dura mater and restore the bone integrity. Since 2002, it is the approach to ETV in babes with open fontanel in our service. Analyzing 41 surgeries, the technique did not interfere with the safety and efficacy of the procedure. No cerebrospinal fluid leak occurred. The minicraniotomy seems to be appropriate and advantageous to that age.

Cleidocranial Dysplasia: Report of 3 Cases and Literature Review

Cleidocranial dysplasia (CCD) is an autosomal-dominant skeletal dysplasia syndrome that is characterized by widely patent calvarial sutures, clavicular hypoplasia, supernumerary teeth, and short stature. It is caused by mutations of the transcription factor RUNX2, which is known as a major regulator of bone differentiation. To report on 3 Chinese pediatric cases of CCD with an emphasis on the clinical presentation and diagnostic modalities. 3 Chinese children were admitted to our hospital because of short stature. All the children had hypoplastic clavicles, absent calvarium, open fontanel, and messy palmprint. Screening laboratory test results for bone mineral density, free thyroxine, and thyroid stimulating hormone were all normal. One child had mental retardation. Two were hereditary, and 1 was sporadic. These results showed that CCD should be suspected in patients with short stature and poor clavicles, calvarium, or teeth. Timely recognition and hereditary tendency counseling is required and useful.

Atypical intracerebral haemorraghe and transitional, transfontanellar CSF fistula caused by a common sawfish (Pristis pristis) injury

Objective: The common sawfish (Pristis pristis) is a sawfish of the family Pristidae, found in subtropical waters up to 5 meters long. His head shows a saw with sharp teeth on both sides with a length of approximately 25% of the whole body length. Attacks against humans are rare, we report an accidental brain injury caused by a 2o years old saw of a common sawfish with uncommon injury pattern. Case report: While playing with the travel souvenirs of his grandfather a previously healthy 14 months old boy was hit on his head by an approximately 8kg weighty saw of a common sawfish. The sawteeths caused three punctiform scalp haemorrhages above the still open fontanelle. One of them showed additional liquorrhea. MRI revealed a small subcutaneous CSF accumulation in this area as well as an intracerebral, intraparenchymatous, right periventricular haemorrhage. This lesion was T1 hypointense and T2 mixed hypo- and hyperintense pointing to a maximal age of 48 hours. The boy had no neurological deficits and the liquorrhea stopped after 36 hours spontanously. Two months later MRI showed no more subcutaneous CSF accumulation and the intracerebral bleeding showed timely resorption. Conclusions: In crush injuries solitary intracerebral haemorrhages are uncommon and difficult to explain. In this case the intraparenchymatous haemorrhage possibly refers to a shearing injury mechanism (diffuse axonal injury) or to a secondary bleeding into a previously existing intracerebral cavernoma.

Pyknodysostosis - complications after dental extraction

Pyknodysostosis is a rare sclerosing bone disorder with autosomal recessive mode of inheritance. The condition is characterized by continuous bone deposition without physiological resorption, occurring mainly in the trabecular and not the cortical bone. The skeletal features include short stature, brachycephaly, open cranial sutures and fontanelles, diffuse osteosclerosis and obtuse mandibular angles. Among the oral features observed were grooved or furrowed palate and disturbances in eruption and exfoliation of teeth. Multiple fractures of long bones and osteomyelitis of the jaw are frequent complications. These are attributed to the increased brittleness and reduced vascularity of the bone as a result of continuous endosteal bone deposition. Treatment is usually successful with surgical management and sustained bactericidal antibiotic therapy, although hyperbaric oxygen has been recommended as adjunct treatment in the more refractory form.

The morphogenesis of wormian bones: A study of craniosynostosis and purposeful cranial deformation

Wormian bones are accessory bones that occur within cranial suture and fontanelles, most commonly within the posterior sutures. They occur more frequently in disorders that have reduced cranial ossification, hypotonia or decreased movement, thereby resulting in deformational brachycephaly. The frequency and location of wormian bones varies with the type and severity of cranial deformation practiced by ancient cultures. We considered the hypothesis that the pathogenesis of wormian bones may be due to environmental variations in dural strain within open sutures and fontanelles. In order to explore this further, we measured the cephalic index (CI) in 20 purposefully deformed pre-Columbian skulls: 10 from Chichen Itza, Mexico, and 10 from Ancon, Peru, as well as 20 anatomically normal skulls used for medical school anatomy classes. We tested for a direct correlation between the CI and the number of wormian bones in skulls with varying degrees of brachycephalic cranial deformation and found no significant correlation. When the CI was grouped into three categories (normal (CI < 81), brachycephalic (CI 81-93), and severely brachycephalic (CI > 93)) there was a trend toward increasing number of wormian bones as the skull became more brachycephalic (P = 0.039). A second part or our study tabulated the frequency and location of large wormian bones (greater than 1 cm) in 3-dimentional computerized tomography (3D-CT) scans from 207 cases of craniosynostosis and compared these data with published data on 485 normal dry skulls from a manuscript on wormian bones by Parker in 1905. Among cases of craniosynostosis, large wormian bones were significantly more frequent (117 out of 207 3D-CT scans) than in dry skulls (131 out of 485). There was a 3.5 greater odds of developing a wormian bone with premature suture closure (P < 0.001). Midline synostosis, specifically metopic or sagittal synostosis, has more wormian bones in the midline, whereas unilateral lambdoidal or coronal synostosis more often had wormian bones on the contralateral side. Taken together, these data suggest that wormian bones may arise as a consequence of mechanical factors that spread sutures apart and affect dural strain within sutures and fontanelles.

Accurate placement of cerebrospinal fluid shunt ventricular catheters with real-time ultrasound guidance in older children without patent fontanelles

The authors present a technique in which real-time ultrasound monitoring is used to aid the insertion of cerebrospinal fluid (CSF) shunt ventricular catheters in children without patent fontanelles. Experience with the technique is reviewed. Intraoperative ultrasound is used to identify the compartments of the lateral ventricles and the choroid plexus prior to catheter insertion. Distance and trajectory to the best location for the hole-bearing segment of the catheter are determined and the catheter is inserted while real-time ultrasound monitoring is performed. Ten pediatric patients without open fontanelles underwent CSF shunt placement with the aid of transcranial ultrasound guidance between July and December 2006. After enlarging an occipital or frontal bur hole to a diameter of 2 cm to accommodate a small-footprint ultrasound probe, a ventricular catheter was carefully advanced into the frontal or occipital horn of the lateral ventricle while continuous ultrasound monitoring was performed. All catheters were inserted with a single pass through the brain. The final position of the ventricular catheter was visualized using intraoperative ultrasound. Postoperative computed tomography scans revealed all ventricular catheters placed accurately into the intended compartment of the ventricular system (for example, frontal horn or trigone). No procedure-related complications were noted. Real-time transcranial ultrasound monitoring through an enlarged bur hole is a feasible, safe, and effective technique for the placement of ventricular catheters in pediatric patients without a patent fontanelle.

Anesthesia Case of the Month

An 8-week-old 0.67-kg (1.47-lb) sexually intact male Chihauahua was evaluated at a referring veterinary clinic after being violently shaken by an Akita. At the time of initial evaluation, the dog was moderately obtunded and tetraparetic but was attempting to ambulate. The right dorsal aspect of the cranium had an asymmetric swelling, and a right head tilt was evident. The dog was unable to see, with miotic pupils bilaterally. The dog had mild left exophthalmia with periocular swelling and right ocular strabismus. Mild epistaxis was present, and upper respiratory sounds were louder than normal. The PCV and TP concentration were 27% and 4.0 g/dL, respectively; blood glucose concentration was too high to register on a glucometer. Insulin (1.56 U/kg [0.71 U/lb], IV) was administered. Results of cytologic examination of a fine-needle aspirate of the cranial swelling were consistent with a diagnosis of hematoma. Skull radiography revealed an open fontanelle with possible skull fractures. Initial treatment included dexamethasone (4.7 mg/kg [2.14 mg/lb], IV), lactated Ringer’s solution (18.75 mL/kg [9.4 mL/lb], IV), morphine (0.5 mg/kg [0.23 mg/lb], IM), mannitol (0.25 mg/kg [0.11 mg/lb], IV), and diazepam (0.5 mg/kg, IV).

A case of restrictive dermopathy

Restrictive dermopathy is a rare autosomal recessive disorder in which rigidity or tautness of the skin from the second trimester causes a fetal akinesia deformation sequence (FADS) and early death. Characteristic features include taut skin with prominent subcutaneous vessels, widely open fontanelles and cranial sutures, distinctive facies, flexion contractures, pulmonary hypoplasia, sparse eyelashes and and eyebrows, thin dysplastic clavicles. The histologic abnormalities of the skin are located in a thin dermis, consisting of compactly arranged collagen fibers, scanty elastic fiber. The dermoepidermal junction is flat, and epidermal appendages are absent, miniaturized or immature. The presence of adipose tissue may be increased. We report on the first Korean case of restrictive dermopathy with typical clinical features and histological findings.

Three-dimensional ultrasound in the prenatal diagnosis of cleidocranial dysplasia associated with B-cell immunodeficiency

A patient with a singleton pregnancy was referred for three-dimensional ultrasonography (3DUS) at 18 + 3 weeks for suspected hypomineralization of the skull bones and absence of the nasal bones. Three-dimensional rendered images of the fetal skull revealed widening of the coronal sutures, absence of the squamous portion of the temporal bone, and absence of the occipital bone, except for two areas of ossification. In addition, a fractured right clavicle was identified. The remainder of the fetal anatomy was normal and biometry was appropriate for gestational age. Genetic amniocentesis revealed a 46,XX fetal karyotype. Family history was positive for a 5-year-old sibling with an open anterior fontanelle. Cleidocranial dysplasia was suspected. A female neonate was delivered by elective repeat Cesarean section at 40 + 3 weeks of gestation without complications and discharged home 3 days after delivery. Prenatal diagnosis was confirmed by physical and radiological evaluation. The infant died at 8 weeks of age due to respiratory syncytial virus pneumonia secondary to B-cell deficiency. RUNX2 mutations were not detected by molecular analysis. There are three relevant aspects to this case: (1) clear visualization of the widened fontanelles and hypomineralized occipital bones was possible with the use of 3DUS; (2) a clavicular fracture was identified in utero with combined high-resolution two-dimensional and 3DUS; and (3) although absence of the nasal bones is most commonly observed in fetuses with chromosomal disorders (e.g. trisomy 21 and trisomy 18), a careful examination of the skeleton should be considered in fetuses with absent nasal bones and a normal karyotype.

Cleidocranial dysplasia in a mother and her daughter within the scope of neurosurgery

Cleidocranial dysplasia is an autosomal-dominant disorder characterized by late closure or nonclosure of the anterior fontanelle, late ossification of cranial sutures, defective clavicle, and delayed eruption of permanent teeth. In this article, two cases of cleidocranial dysplasia involving a mother and her daughter are reported, and a case management policy is suggested. The 1-year-old daughter was macrocephalic and brachycephalic, and had midface hypoplasia and hypertelorism. Plain radiographs revealed aplasia of the clavicles. Three-dimensional computerized tomography scanning demonstrated a large anterior fontanelle, a patent posterior fontanelle, and bone defects at the pterion and asterion, together with nonfused metopic and sagittal sutures. The mother was 22 years of age. She had an open anterior fontanelle, aplastic clavicles, and unerupted permanent teeth. Although it is a rare disorder, cleidocranial dysplasia should be recognized by neurosurgeons. A protective helmet can be provided in early childhood, and craniofacial remodeling can be undertaken at a later age, when the final size and shape of the skull become apparent.

Supratentorial cystic hemangioblastoma with infratentorial extension—a unique location and a rare infant case

Supratentorial occurrence of hemangioblastoma is an exceedingly rare event. Even rarer is the occurrence of a supratentorial hemangioblastoma in infancy. We hereby report the case of an 18-month-old girl who presented with irritability, increasing head size, and an open fontanelle. MR scans demonstrated triventricular hydrocephalus and a cystic mass within the left lateral ventricle. There was an 18 x 15 x 13 mm enhancing nodule along the medial aspect of the cyst. The cystic mass was mainly supratentorial but there was a caudal extension through the tentorial incisura that compressed the cerebellum. At surgery, the content of the cyst was xanthochromic. Enhancing medial nodule was extremely vascular and was extirpated totally. The pathological diagnosis was reticular variant of hemangioblastoma. The child is well at 4 years of age. An extensive review of the English literature revealed only three such cases. All three cases survived the operation.