Open Anterior Fontanelle Research Articles

Congenital Porencephaly in a New Born Child

A 2-day-old male child presented with history of enlarged head and seizures since birth, born by caesarean section. Head circumference was 56 cm (dilated) with widely open anterior and posterior fontanelle. Routine investigations were within normal limits. CT head revealed a large non-enhancing fluid attenuating cystic lesion in posterior parietal and occipital region with communicating to dilated bilateral lateral ventricles and subarachnoid space.

Neuromonitoring of Neonatal Extracorporeal Membrane Oxygenation Patients Using Serial Cranial Ultrasounds*

Neuromonitoring of Neonatal Extracorporeal Membrane Oxygenation Patients Using Serial Cranial Ultrasounds*

An unusual cause of severe rickets: Questions

A two-and-half-year-old girl presented with a history of failure to thrive, increasing abdominal distension, bowing of legs, and excessive tiredness for the past 1 year. There was history of polyuria and polydipsia since birth. She had a history of fracture of the left femur following trivial trauma 6 months previously, following which she was unable to walk. Her parents were nonconsanguineous but there was a history of one male sibling death at 4 years of age with high-grade fever. He was also reported to have severe bowing of legs, pallor, and weakness. Upon examination, the child’s weight was 8.2 kg and height was 70 cm (both < third centile for age). She had clinical features of rickets, including a wide open anterior fontanel, widened wrists, rachitic rosary, and genu valgum. There was massive hepatosplenomegaly; liver 8 cm below costal margin, and spleen 6 cm below costal margin with ascites. Her eye examination was normal. Lab investigations revealed normal vitamin D levels (28 ng/ml), elevated serum alkaline phosphatase (2,458 IU/l), normal anion gap metabolic acidosis (pH 7.01, serum sodium 133 mmol/l, serum potassium 3.8 mmol/l, bicarbonate 17 mmol/l, chloride 106 mmol/l, anion gap-10) and severe hypophosphatemia (serum phosphate 0.7 mg%). Urine analysis revealed glucosuria, aminoaciduria, phosphaturia (elevated fractional excretion of phosphate: 63 %), and hypercalciuria. She had low platelet count (60,000/mm) and deranged clotting studies (prothrombin time: 17.7 s; INR: 1.62; activated partial thromboplastin time 40.9 s). The rest of the liver function was within normal limits. X-ray of the lower limbs showed pathological fracture of left femur shaft and severe osteopenia (Fig. 1). Ultrasound of abdomen showed hepatosplenomegaly with coarse echo-texture and multiple hypodense lesions in the liver. The kidneys were normalsized and there was no nephrocalcinosis.

Imaging in the diagnosis of a rare anomaly: Cleidocranial dysplasia

Cleidocranial dysplasia (CCD) is a rare autosomal dominant and developmental anomaly of skeleton characterized by generalized dysplasia of the bones and teeth. CCD is caused by mutation of transcription factor RuNx2, although 40% of the cases appear spontaneously with no apparent genetic cause. The disorder presents with partial or complete absence of clavicles, open anterior fontanelle, and cranial sutures, presence of multiple wormian bones, short stature, wide pubic symphysis, short middle phalanges of the 5 th finger, over retained deciduous teeth, multiple impacted permanent and supernumerary teeth and various other abnormalities. The frequency of this disorder is one/million individuals. Early diagnosis of CCD is essential for initiating the appropriate treatment approach. In confirmed cases, genetic counseling for family planning should certainly be advised. Because of its rarity, we report the classical case of CCD, with an emphasis on the importance of clinical and radiographic findings.

Index of Suspicion in the Nursery

A 2-day-old male infant is transferred urgently from another hospital to the emergency department for sudden onset of cyanosis, tachypnea, retractions, and hypoactivity. Head swelling is noted. The infant was born by cesarean section to a G3P2L2 mother whose pregnancy and delivery were uneventful by report. Prenatal course was unremarkable. Maternal serologies were not available. On arrival, the infant is noted to have generalized severe pallor; he is unconscious and flaccid with extended extremities. His heart rate is 69 beats per minute and falling; his capillary refill is delayed with nonpalpable peripheral pulses. He has no spontaneous movements and is unresponsive to painful stimuli. His pupils are fixed, dilated, and nonreactive to light bilaterally. Head examination reveals open anterior and posterior fontanelles, with a left frontoparietal fluctuant edema extending to the neck. Immediate resuscitation is initiated, including endotracheal intubation, chest compressions, medications (epinephrine), and fluid resuscitation with normal saline then O negative packed red blood cells via an intra-osseous line. Placement of an umbilical venous line is not attempted because of dry umbilical stump. Attempts at obtaining arterial or venous blood gas fail due to poor perfusion. Further details in the history, physical examination, and imaging studies reveal the diagnosis. Further details reveal a history of head trauma 2 hours before presentation. The infant had fallen on the concrete ground during routine bathing care. Immediately after the fall, the infant was reported to be active; however, shortly thereafter, he became less active and cyanotic requiring oxygen support. Upon presentation, detailed examination reveals a boggy fluid collection on the left frontoparietal area extending to the neck with a ballotable fluid wave beneath the scalp. Skull radiograph reveals two comminuted and displaced fractures of the left parietal …

Cleidocranial Dysplasia in Son and Father: Report of Two Rare Cases with Review of Literature

Cleidocranial dysplasia (CCD) is a rare autosomal dominant skeletal disease, which 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 rare case of CCD in a 15-year-old boy and in his father and emphasize the importance of clinical and radiographic findings in CCD.

Visual Diagnosis: Multiple Joint Contractures in a Male Newborn

1. Lincy Cherian, MD* 2. Jacob J. Rosenberg† 1. *Pediatric Chief Resident, Nassau University Medical Center, East Meadow, NY. 2. †Associate Program Director, Department of Pediatrics, Nassau University Medical Center; Assistant Professor of Clinical Pediatrics, SUNY at Stony Brook, West Hempstead, NY. A male infant is born at 35 weeks' gestation to a 38-year-old G3P2 woman and is admitted to the neonatal intensive care unit (NICU) because of multiple joint contractures (Fig. 1 ). The mother received appropriate prenatal care during pregnancy, during which multiple fetal sonograms revealed a prominent renal pelvis, poor fetal motion and tone, persistent extension of the arms, flexion of the knees, and extension of one ankle. However, maternal morbid obesity limited the ability to achieve full-quality images. A maternal serum screen suggested that the fetus had trisomy 18, but the mother refused additional investigative studies, including amniocentesis. Figure 1. A term male newborn who has multiple joint contractures. Apgar scores are 8 at 1 minute and 8 at 5 minutes. Vital signs are normal for age, and the weight, length, and head circumference are within the 25th percentile for gestational age. Physical examination reveals a flat, open anterior fontanelle; normal-set ears; intact palate; normal cardiovascular, lung, and abdominal examination findings; and normal male genitalia. The infant's hips are rotated externally, the knees are flexed with limited range of motion (ROM) (Fig. 2 ), the …

Index Of Suspicion In The Nursery

An 11-day-old female infant presents to the hospital because of “projectile vomiting.” According to her mother, the infant vomits after every feeding and subsequently appears hungry. She has three wet diapers and one bowel movement per day. Her emesis is reported to be bright yellow but does not appear to be the color of her formula. The patient was born at term via normal spontaneous vaginal delivery. She weighed 3.7 kg and there were no complications or infection. She was sent home on cow milk formula, feeding 2 oz every 3 hours. Today, she is acting appropriately and has no fever, cough, congestion, or sick contacts. On physical examination, her temperature is 36.4°C, heart rate is 160 beats/min, respiratory rate is 44 breaths/min, blood pressure is 87/40 mm Hg, weight is 3.065 kg (10th percentile), length is 50 cm (50th percentile), and head circumference is 33.5 cm (5th percentile). The infant is awake, alert, active, and in no acute distress. She has a normocephalic head with an open and soft anterior fontanelle and no evidence of trauma. The eye examination reveals bilaterally symmetric red reflexes and anicteric sclera. Findings on the oropharyngeal examination are normal, with no exudates, an intact palate, and moist mucous membranes. Cardiovascular examination demonstrates no murmurs, a regular rate and rhythm, good femoral pulses, and a capillary refill of less than 2 seconds. Lungs are clear to auscultation bilaterally. Abdominal examination documents active bowel sounds over a soft, nontender, and nondistended abdomen, with no masses or notable hepatosplenomegaly. Genitourinary examination notes normal female genitalia with a patent anus. Extremity examination shows no clubbing, cyanosis, or edema. The laboratory results on admission are:

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.

Letters to the Editor

Letters to the Editor

Silent or minute hemorrhages do probably occur even in congenital supratentorial hemangioblastoma cases

I read the article by Kim et al with great interest [1].Supratentorial occurrence of hemangioblastoma is anexceedingly rare event. Over almost a century since thefirst report of such a case by Bielschowsky in 1902, atotal of 112 cases appeared in the medical literature [2].Even rarer is the occurrence of a supratentorialhemangioblastoma in infancy. Kim et al cited only twocases from English literature [3, 4] and an additionalcase from Korean neurosurgical literature.I felt obliged to contribute to their data because Irecently had experience with such a case and during anextensive literature search I came to realize that firstinfantile supratentorial hemangioblastoma case waspublished as early as 1948. This is an exceptional casesince there is no record of this citation anywhere in thepediatric neurosurgery literature. In 1948, WallaceLeibner of Brooklyn, NY published a series of six in-fants under the 2 years of age in whom brain tumorswere found at operation or at autopsy [5]. One of thesecases was a 22 months-old-baby-boy who presentedwith left hemiparesis. Positive diagnostic findings werepapiledema, separated sutures on plain x-rays andEEG abnormality from the centro-parietal right cere-bral hemisphere. Surgery was performed on February7, 1947 by Dr Max Tarlov. Surgeon’s description ofoperative findings were as follows(... ‘‘the bone in thisarea was paper thin. A needle introduced to a depth ofabout 0.5 cm from the surface yielded yellow fluid.Following an incision into the brain, a large cysticcavity was disclosed. It contained 60 cc of yellow fluidwhich coagulated spontaneously. Along the anteriorwall of the cavity was a brown, slightly nodular andvery vascular tumor which was extremely tough. Itmeasured about 3–4 cm in diameter. Elsewhere thecavity was lined by slightly yellowish stained tissue thatappeared to be brain. As far could be determined, theentire tumor was removed’’. The child tolerated theprocedure well. When last seen about 8 months afterthe surgery, the boy was cheerful and playful and usedall extremities equally well. I want to emphasize thefact that the surgeon noted xanthochromic cyst fluidwith high protein representing previous or organizedhemorrhage.The case reported by Johnson et al in 2004 was a4 weeks-old-baby-boy who presented with acute onsetof projectile emesis, lethargy and irritability and lefthemiparesis [4]. MR imaging of the brain demon-strated multilobular cysts with enhancing mural nod-ules, displacing the right temporal, parietal and theoccipital lobes. At surgery the multiloculated cystsagain contained xanthochromic fluid under pressure.Several pink-brown tissue masses were identified uponcyst fenestration and tumor biopsy.My patient (e-published in March 2006) was an18 month-old-girl with increasing head size, an openanterior fontanelle and irritability [6]. Although late inreaching her milestones the child was able to stand andbabble at around 15 months of age. Fundoscopy re-vealed elevation of the optic disc. Plain x-rays revealed‘‘beaten copper sign’’. MR scans demonstratedtriventricular hydrocephalus and a cystic mass withinthe left lateral ventricle. There was a 18 · 15 · 13 mmenhancing mural nodule along the medial aspect of thecyst somewhere over the left thalamus. The cystic masswas mainly supratentorial but there was an infraten-

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.

Index of Suspicion In the Nursery

A 9-day-old Hispanic boy presents to the emergency department with seizures and apnea. The seizure lasts for about 3 minutes and is characterized by stiffening of the body and laryngospasm. Laboratory evaluation reveals a serum calcium concentration of 6 mg/dL (1.5 mmol/L). Hypocalcemic tetany resolves after administration of intravenous calcium. The infant also has fever of 100.4°F (37.7°C). The infant was born at term, and his birthweight was 3.2 kg. He is the fifth child born of nonconsanguineous parentage. The antenatal period was uneventful. Because the family does not have insurance, the mother had not taken prenatal vitamins and supplements. The baby has been fed with human milk and formula. On physical examination upon admission to the hospital, his temperature is 99°F (36.9°C), pulse is 186 beats/min, respiratory rate is 54 breaths/min, blood pressure is 97/64 mm Hg, and weight is 3.83 kg. He has no dysmorphic features and is normocephalic, with an open and flat anterior fontanelle without craniotabes. No cataracts or Chvostek sign are present. Cardiovascular examination reveals a regular heart rate and rhythm, with no murmurs. The lungs are clear to auscultation bilaterally, and there is no hepatosplenomegaly. Neurologic findings are normal. Laboratory evaluation reveals: sodium, 136 mEq/L (136 mmol/L); potassium, 5.2 mEq/L (5.2 mmol/L); chloride, 101 mEq/L (101 mmol/L); bicarbonate, 26 mEq/L (26 mmol/L); blood urea nitrogen, 10 mg/dL (3.57 mmol/L); creatinine, 0.3 mg/dL (26.5 mcmol/L); glucose, 109 mg/dL (6.1 mmol/L); calcium, 6.6 mg/dL (1.65 mmol/L); phosphorous, 10.5 mg/dL (3.4 mmol/L); albumin, 3.0 g/dL (30 g/L); and magnesium, 2 mg/dL (0.82 mmol/L). The white blood cell count and differential count are normal. Findings on cerebrospinal fluid evaluation are normal. However, the 25-hydroxyvitamin D concentration is less than 7 ng/mL (17.5 nmol/L) (normal, 10 to 68 ng/mL [25 to 169.7 nmol/L]), the 1,25-dihydroxyvitamin D concentration is 45 …

Virtual endoscopy of the cerebral ventricles based on 3-D ultrasonography

Virtual endoscopy enables preoperative surgical planning based on “surgeons’ view” information in the individual patient. In neurosurgery, magnetic resonance (MR) images are mainly used for planning of virtual neuroendoscopy (VNE). We studied the feasibility of three-dimensional (3-D) ultrasonography as the imaging modality for VNE in pediatric patients with hydrocephalus. 3-D ultrasonography data sets were obtained through the open anterior fontanelle and analyzed using perspective volume rendering, with delineation of the ventricular system for anatomical details in relation to standard ultrasonography and intraoperative anatomy, during endoscopy in two infants with hydrocephalus. VNE clarified anatomical variants seen on standard ultrasonography images, anticipated ventricular dysmorphia seen during neuroendosopy and enabled a realistic impression of an endoscopic inspection into the ventricular system of the two infants studied. Based on 3-D ultrasonography, VE enables detailed information on ventricular anatomy in pediatric patients for planning of endoscopic interventions. (E-mail: Andreas.Joedicke@neuro.med.uni-giessen.de)

Previously unrecognized congenital progeroid disorder

We report on a 5-year-old girl with a progeroid disorder and compare her to a previously reported woman now in her forties, whom she resembles to a striking degree. Common manifestations include pre- and post-natal growth retardation, markedly diminished subcutaneous fat, wrinkled skin, abnormally scant hair growth, hypoplastic distal phalanges with hypoplastic nails, umbilical hernia, large open anterior fontanelle, and normal cognitive and motor development. Both patients have had a prematurely aged appearance since birth. These 2 patients appear so different from previously reported patients with progeroid disorders that they may represent a separate entity.

Radionuclide scintigraphy of the brain and ultrasound studies in tubercular meningitis.

The present study was undertaken to assess the usefulness of brain scintigraphy and ultrasound evaluation of changes described in tuberculous meningitis. Brain scans were done with Tc-99m DTPA in 127 cases of tuberculous meningitis (TBM) and ultrasound studies in 41 cases with open anterior fontanelles. The data show that 54/127 (42.5%) of cases had abnormal brain scans, of which 33/54 had cerebrovascular infarcts and 14/54 had tuberculomas, while the remaining cases had either subdural effusions or generalized increased activity. The cerebrovascular infarcts were more frequent in patients with acute onset of TBM with associated hemiplegias. The ultrasound studies indicated that 80% of all cases of TBM had a mild to severe dilatation of the ventricles. About 55% of cases had a dilatation of only the lateral ventricles while the remaining cases had a block of aqueduct or beyond the fourth ventricles. Increased intracranial pressure changes were associated with a higher incidence of severe ventricular dilatation. Noninvasive detection methods in the study of TBM are important not only from the point of view of diagnosis but also to understand and evaluate the pathological changes occurring in vivo during the disease process and to judge the progress and response to treatment. A combination of ultrasound and brain scans offers diagnostic accuracy comparable to CT. Apart from cost, the larger radiation doses resulting from CT studies preclude its routine use in pediatric subjects.

Real-time sonographic sector scanning of the neonatal cranium: technique and normal anatomy.

A commercially available wide field of view real-time mechanical sector scanner can be used to image the neonatal cranium. Because of the small transducer head size, the open anterior fontanelle can function as an acoustic window. By thus avoiding bone, higher frequency transducers may be used to improve image resolution. Infants may be scanned quickly without sedation in their isolettes in the neonatal intensive care unit. Sterility of the infant environment is maintained by placing the transducer in a surgical glove. Using this technique, detailed normal anatomy can be seen such as vascular structures, caudate nucleus, thalamus, third ventricle, cavum septum pellucidum, and the thalamocaudate notch. Angled coronal and sagittal sonographic anatomy is correlated with neonatal cadaver brain sections sliced in similar planes centered on the anterior fontanelle.

1396 THE EFFECTS OF PATENT DUCTUS ARTERIOSUS (PDA) ON PULSATILE FLOW IN THE ANTERIOR CEREBRAL ARTERIES (ACA)

The noninvasive measurement of pulsatile flow in the ACA is possible with a transcutaneous Doppler technique in infants with an open anterior fontanel. A pulsatility index (PI), calculated from the systolic and diastolic amplitudes of flow, represents resistance to flow (range 0.0-1.0). The Doppler technique has also been used to diagnose PDA. We have used these techniques to study the relationship between PDA and cerebral blood flow in the ACA. PDA was confirmed by radiological and echocardiographic studies. In an ongoing study, 5 infants (birthweight <1500 g) had increase in PI at the time of development of PDA and decrease in PI to normal after closure of the PDA. PI values (mean ± SD) prior to, during and following closure of the PDA were 0.69 ± 0.03, 0.89 ± 0.04 and 0.69 ± 0.01 respectively (N=0.66 ± 0.06). Serial values of PI in a representative case are shown. Arrow represents therapy for closure of PDA. The above data demonstrate decreased pulsatile flow in the ACA at the time of development of PDA and abrupt return to normal following closure of the PDA. These observations re: rapid fluctuations in cerebral blood flow may have implications for the genesis of ischemic cerebral injury and/or the development of intra-ventricular hemorrhage in the premature infant.

CHICAGO PEDIATRIC SOCIETY

J., a boy, aged 2\m=1/2 years, was admitted to the hospital with the history of dulness, apathy, short legs, an open mouth, stupid facies, coarse hair and a dry skin, apparently since birth. The mother stated that the patient did not progress as did her other chilldren. His weight at birth was 9 pounds (4.1 Kg.) ; otherwise the birth and early history were not remarkable. The patient cut two teeth at 11 months and sat up at 14 months, but had never walked or talked. He had been breast fed for ten months. He had a brachycephalic head, coarse hair, broadness of the root of the nose, epicanthus, a naked trachea, an open anterior fontanel, an open mouth, an enlarged and protruding tongue, flaring nostrils, a trident hand, a protuberant abdomen and myxedematous skin. The chest, heart and lungs were normal. The height