Anterior Fontanelle Research Articles

Spontaneous external rupture of hydrocephalus after fontanelle closure: a case report and review of literature

We report a 2-year-old child with congenital hydrocephalus who presented with a frontal meningocoele due to ventriculo-subgaleal fistula secondary to hydrocephalus (internal rupture), which gradually ruptured spontaneously through the skin. This case is unique given its association with occipital encephalocele and is only the second case to present with external rupture beyond the age of 1 year. Further, the ventricles have ruptured through the skull, after the closure of anterior fontanelle, into the subgaleal space. It challenges the present understanding that external rupture occurs only through an open anterior fontanelle.

Increasing Head Circumference and Jaundice in a 4-week-old Infant

1. Marlisa Wolf, MD* 2. Komal Desai, MD* 3. Esther Kisseih, MD*,† 4. Beena Sood, MD*,†,‡ 1. *Children’s Hospital of Michigan, 2. †Neonatology Division 3. ‡Wayne State University School of Medicine Detroit, Michigan A 4-week, full term girl presents to the NICU for jaundice present since 1 week of age and increasing head circumference for over a week. She was born after an uneventful 41-week pregnancy. Family history was significant for Gilbert disease in the father. She has been exclusively breastfed since birth. At 2 weeks of age, she was seen in the emergency department for vomiting after each feeding and jaundice. An abdominal ultrasound showed no evidence of pyloric stenosis; treatment with ranitidine was initiated for suspected gastroesophageal reflux disease. Her clinical jaundice was attributed to breastmilk, and no further laboratory evaluation was completed. At 4 weeks of age, her mother brought the infant to the referring hospital for evaluation of persistent jaundice, increasing head circumference, frequent bruising, and epistaxis. It was confirmed that her head circumference had increased from 33.5 cm (14.5%) at birth to 42 cm (99%) at 4 weeks of age. She was noted to have prolonged bleeding from her intravenous site. Liver evaluation revealed a direct hyperbilirubinemia (total bilirubin of 7.9 mg/dL [135 μ mol/L] with direct bilirubin of 3.9 mg/dL [67 μ mol/L]), and elevated enzyme levels (alanine aminotransferase 83 U/L [1.38 microkatal (ukat)/L], aspartate transaminase 163 U/L [2.7 ukat/L], and alkaline phosphatase 328 U/L [5.47 ukat/L]). She was transferred to our level IV NICU for further management. ### Patient Clinical Course The physical examination upon presentation to the NICU was remarkable for macrocephaly, a bulging anterior fontanelle, icterus, and multiple petechiae. Differential diagnoses included infection, biliary abnormalities including biliary atresia, and late onset hemorrhagic disease of the newborn for which laboratory and radiographic evaluation was initiated. Although the …

Neurodevelopmental risk evaluation of premature closure of the anterior fontanelle.

To evaluate neurological development of completely healthy children with anterior fontanelle premature closure via Denver Developmental Screening Test II and to compare the results with control group. The records of 140 patients applied to Mersin University Pediatric Neurology Outpatient Clinic between 2011 and 2019 with the complaint of premature closure of the anterior fontanelle were retrospectively reviewed. Patients with microcephaly, craniosynostosis, infection, sequelae of hypoxia-ischemia, metabolic disorders, intracranial hemorrhage, epilepsy, endocrine problems, and dysmorphic features were excluded from the study. Sixty-six completely healthy children with anterior fontanelle premature closure were included in the study. Denver Developmental Screening Test II was performed by the same developmental specialist to the children with premature closure of the anterior fontanelle as well as to the healthy control group. For each child included in the case and the control group, 90% of the values for each development area were calculated and recorded. Then, the results were compared. Denver II Developmental Screening Test (p < 0.001) and gross motor subtest (p < 0.001) results showed statistically significant retardation in the case group compared with the control group. The study was the first study in the literature on the gross motor development of children with premature closure of anterior fontanelle, and it has been found significantly undeveloped compared with the control group, and it has been concluded that similar patients should be evaluated from this view point in pediatric neurology department.

A New Species of Trichomycterus (Siluriformes: Trichomycteridae) from Madidi National Park, Amazon Basin, Bolivia

Trichomycterus lauzannii, new species, is described from the upper Río Beni basin in La Paz, Bolivia. The new species is distinguished from congeners by the posterior cranial fontanel reduced to a small round opening on the posterior portion of supraoccipital bone and the possession of a rounded anterior cranial fontanel between frontal bones. In addition, the new species can be further distinguished from congeners by the possession of seven or fewer odontodes in the opercular patch, a pelvic fin which does not reach the anus when depressed, round blotches along the side of body, a first pectoral-fin ray prolonged as a short distal filament, and several meristic and morphometric features. Comparisons are given with similar congeners (T. cachiraensis, T. megantoni, T. sketi, and T. steindachneri).

Prenatal visualisation of the torcular herophili by means of a Doppler technology highly sensitive for low-velocity flow in the expert assessment of the posterior fossa: a prospective study.

To evaluate the usefulness of a Doppler technology highly sensitive for low-velocity flow in the antenatal imaging of the torcular herophili (TH) in the second trimester of pregnancy. Prospective study. Referral Fetal Medicine Unit. Non-consecutive series of singleton pregnancies submitted to antenatal neurosonogram between 20 and 28weeks of gestation. A midsagittal section of the fetal brain was obtained by insonating through the anterior fontanelle, then the MV-Flow™ and LumiFlow™ presets were selected to visualise the TH as the posterior confluence of the superior sagittal sinus and the straight sinus. Evaluation of the anatomic relationship of the TH with the 'transpalatal line' joining the upper bony palate to the fetal skull. A total of 99 pregnant women were recruited, including one fetus with open spina bifida, one with Dandy-Walker malformation (DWM) and two with Blake's pouch cysts. In normal fetuses, the TH appeared to lie on or just below the 'transpalatal line'. In the cases of Blake's pouch cyst, the position of the TH appeared normal if compared with controls, whereas in DWM a supra-elevated position of the TH in respect of the transpalatal line was demonstrated. Finally, in the fetus with Chiari II malformation the TH was identified below the 'transpalatal plane'. Prenatal ultrasound visualisation of the TH by means of newly developed Doppler technologies characterised by high sensitivity for low-velocity flow is feasible and allows the indirect evaluation of the insertion of cerebellar tentorium in the second trimester. Prenatal imaging of the torcular herophili using a Doppler technology highly sensitive for low-velocity flow.

Use of Point-of-care Ultrasound for the Seizing Infant: An Adjunct for Detection of Abusive Head Trauma

Case PresentationAn eight-week-old infant presented to the emergency department in cardiac arrest. Return of spontaneous circulation was obtained and the patient subsequently began seizing. Point-of-care ultrasound of the anterior fontanelle revealed an extra-axial fluid collection consistent with subdural hematoma (SDH).DiscussionAbusive head trauma is still frequently missed on initial presentation. In addition to validated screening clinical prediction rules, point-of-care cranial ultrasound can be used as a noninvasive adjunct for detection of SDH related to abusive head trauma in infants with an open fontanelle.

Acute Epidural Hematoma in Neonate Following Attempted Vacuum-Assisted Delivery. Case Report

An acute epidural hematoma (AEDH) has been reported to occur as a serious morbidity in association with a vacuum-assisted delivery. We experienced a neonate case with an AEDH who was delivered by emergency cesarean section after an attempted vacuum extraction procedure. Magnetic resonance imaging suggested a liquefied hematoma of fluid-fluid levels, with enlargement to a maximum thickness of 18 mm and lateral ventricular compression. Absence of symptoms indicating increased intracranial pressure, such as a tense anterior fontanelle, increased head circumference, seizure, and apnea, led to successful conservative therapy. Less-invasive treatment options and conservative management to avoid a craniotomy for an AEDH occurring in neonates are also discussed.

Improvement in ventriculomegaly following cervicomedullary decompressive surgery in children with achondroplasia and foramen magnum stenosis.

The role of cervicomedullary decompression (CMD) in the care of hydrocephalic achondroplastic children who present with simultaneous foramen magnum stenosis is not well understood. We sought to determine the percentage of symptomatic achondroplastic children with foramen magnum stenosis who had stabilization or improvement in ventriculomegaly following CMD. The authors retrospectively reviewed the records of pediatric patients at Cedars-Sinai Medical Center with achondroplasia and signs of progressive ventriculomegaly who underwent CMD for symptomatic foramen magnum stenosis between the years 2000 and 2018. Clinical outcomes included changes in fontanelle characteristics, head circumference (HC) percentile, and incidence of ventriculoperitoneal (VP) shunting. Radiographic outcomes measured included changes in Evans ratio. We excluded individuals who were shunted before CMD from our study. Sixteen children presented with symptomatic foramen magnum stenosis and full anterior fontanelle or jump in the HC percentiles. Two children underwent placement of a VP shunt before decompressive surgery and were excluded from further analysis. Of the remaining 14 children who underwent CMD, 13 (93%) showed softening or flattening of their fontanelles post-operatively. Ten of these 14 children had both pre- and post-operative HC percentile records available, with 8 showing increasing HC percentiles before surgery. Seven of those eight children (88%) showed a deceleration or stabilization of HC growth velocity following decompression of the foramen magnum. Among 10 children with available pre- and post-operative brain imaging, ventricular size improved in 5 (50%), stabilized in 2 (20%), and slightly increased in 3 (30%) children after decompression. Two children (14%) required a shunt despite decompression of the foramen magnum. A significant proportion of children with concomitant signs of raised intracranial pressure or findings of progressive ventriculomegaly and foramen magnum stenosis may have improvement or stabilization of these findings following CMD. CMD may decrease the need for VP shunting and its associated complications in the select group of hydrocephalic children with achondroplasia presenting with symptomatic foramen magnum stenosis.

The early pattern of human corpus callosum development: A transvaginal 3D neurosonographic study.

To provide an in-vivo description of early corpus callosum (CC) development. We reviewed 3D US volumes acquired transvaginally (TVUS) through the anterior fontanelle, between 14 to 17 weeks. The following landmarks were recognized: tela-choroidea (TC), foramina of Moro, early CC and the evolving cavum septi pellucidi. The following measurements were taken: total, anterior and posterior sections, and height of the CC (referenced to the anterior TC border). All measurements were correlated to both the gestational age and the transverse cerebellar diameter (TCD). Eighty nine volumes were included in the study (mean 15.1 weeks ± 0.84, TCD range, 13.1-18.4 mm) with high inter and intra observer correlation of the measurements. We found high correlation between CC length and height, and TCD. The anterior segment of the CC appear earlier than the posterior one, and growth continues bi-directionally. Initially, the posterior elongation is significantly larger than the anterior one. Association of all CC measurements with TCD remained significant when co-varying for maternal age and fetal sex. imaging the fetal CC is feasible from 14 weeks by TVUS, by following the suggested insonation approach. The early CC develops bi-directionally, and the posterior elongation is more significant than the anterior one.

Cleidocranial Dysplasia: Management of the Multiple Craniofacial and Skeletal Anomalies.

Cleidocranial dysplasia (CCD) is a rare autosomal dominant disorder caused by mutations in the Runx2 gene. The CCD is characterized by frontal bossing, a patent anterior fontanelle, presence of Wormian bones, midface hypoplasia, multiple dental abnormalities, clavicular hypoplasia or aplasia, skeletal abnormalities, and short stature. The aims of this study are to report the phenotypic manifestations of all patients who presented with CCD and to review the multidisciplinary management of these patients. The longitudinal data of patients with a diagnosis of CCD treated at The Australian Craniofacial Unit from 1980 to 2019 were reviewed. Fourteen patients were identified for inclusion in this study. The age at referral to the unit ranged from 1 week old to 49 years old (mean 11.2 years old). All patients had clinical features of frontal bossing, a patent anterior fontanelle, multiple Wormian bones, midface hypoplasia, abnormal dentition, clavicular hypoplasia/aplasia, and normal intellect. Eleven patients had obstructive sleep apnea. Eight patients had positive family history. Speech issues were found in 6 patients and abnormal hearing was found in 4 patients. Seven patients who underwent skeletal survey were found to have skeletal abnormalities. All patients were evaluated and managed by the multidisciplinary team, which consisted of craniofacial surgeons, pediatric dentists, orthodontists, ENT surgeons, pediatricians, clinical geneticists, radiologists, orthopedic surgeons, and social workers. All patients were treated by dentists/orthodontists requiring multiple surgical interventions and orthodontic treatment. Seven patients who had recurrent ear infection underwent ventilation tube insertion. Seven of 11 patients who had obstructive sleep apnea underwent adenotonsillectomy. Four patients underwent orthognathic surgery to correct midface hypoplasia and malocclusion. Two patients had cranioplasty for correction of metopic depressions. The characteristic findings of patients with CCD involving multiple regions of the body should draw clinicians' attention to the need for multidisciplinary management of these patients.

Case Series of Antrovestibular Polyp: An Unusual Growth of Antral Polyp Toward the Nasal Vestibule Through the Anterior Fontanelle

Background and Objectives: This case series is aimed to introduce a new term, antrovestibular polyp (AVP), for an antral polyp herniating anteriorly toward the nasal vestibule and to describe an antral polyp direction of growth through the anterior and posterior fontanelles.Materials and Method: This is a retrospective study involving review of patients who underwent surgery due to maxillary sinus polyp herniating anteriorly toward the nasal vestibular area or posteriorly toward the choana at a tertiary training hospital from January 2007 through July 2016. Their demographic data, computed tomography scan findings, and endoscopic evaluations were analyzed.Results: This study included 49 subjects; 8 (16.33%, 6 males) with AVP and 41 (83.67%, 24 males) with antrochoanal polyps (ACP). The mean ages of AVP and ACP patients were 9 and 14.4 years, respectively (p=0.006). The subjects were identified as AVP when computed tomography scan showed an antral polyp directed anteriorly toward the nasal vestibular area, while polyps growing toward the choana were identified as ACP. Endoscopic review showed that AVP grew out through an accessory ostium located anterior to the uncinate process at the area of the anterior fontanelle, while ACP started from an accessory ostium of the posterior fontanelle or a widened maxillary natural ostium.

MON-060 P-450 Oxidoreductase Deficiency with Antley Bixler Phenotype: A Novel Mutation

IntroductionWe present first case of 46 XY Disorder of Sex Development (DSD) from India due to P-450 Oxidoreductase Deficiency with Novel variant (p.Ala541Thr) in a heterozygous state.Case Discussion6 months old boy presented with ambiguous genitalia since birth. No history of neonatal crisis, failure to thrive and pigmentation of skin, maternal virilisation or drug ingestion during pregnancy. On examination: weight 6.2 Kg (3rd centile), height 64 cm (3rd centile), MPH-170 (25-50th centile), head circumference 38 cm (−2.7 SD), vitals stable, trigonocephaly with fused anterior and posterior fontanelle, prominent pointed forehead, midfacial hypoplasia, up slanting eyes, hypertelorism and low set ears were present. Genitalia: 1.5 cm phallus like structure with foreskin, chordee, single perineal opening in form of peno-scrotal hypospadias, bifid scrotum with poor rugosity and poor pigmentation and both gonads (1 ml) were palpable in labio-scrotal fold with external masculinization score (EMS), 6/12 and Prader stage 4.Investigations showed normal electrolytes and blood sugar, High basal ACTH, post stimulation cortisol 14mcg/dl, Basal 17-OHP was 8.6 ng/ml and post stimulation 12ng/ml, with low DHEAS 36.4 mcg/dl and androstenedione 0.42 ng/ml, LH 16.09 mIU/ml (elevated), FSH 2.97 mIU/ml (normal) and low Testosterone for his age. T/DHT 9.6 (normal<10) and Testosterone /Androstenedione ratio 0.95 (normal >0.8). Abdominal and Pelvic imaging showed normal adrenal glands and absent female internal genitalia, bilateral testis in labio-scrotal fold (right testis-6x6.5x11 mm, left testis-6.6x7x10 mm), corpora cavernosa and bifid scrotum. NCCT Head showed metopic craniosynostosis with trigonocephaly and hypotelorism. Skeletal survey showed bowing of femora. 20 cell Karyotype of peripheral blood lymphocyte was 46 XY. NGS was done of the POR gene, which revealed a heterozygous missense variation in exon 13 of the POR gene variant (p.Ala541Thr) which has not been reported yet.The patient was initiated hydrocortisone, fludrocortisone, DHT gel and corrective surgery is planned.Clinical learningAlthough in PORD classically the inheritance is generally autosomal recessive, but manifesting heterozygotes are not uncommon1. This case also shows the value of Next gen sequencing and the role it can play in DSD1. Scott RR, Gomes LG, Huang N, Van Vliet G, Miller WL. Apparent manifesting heterozygosity in P450 oxidoreductase deficiency and its effect on coexisting 21-hydroxylase deficiency. J Clin Endocrinol Metab. 2007;92:2318–2322

Temporal mapping of the closure of the anterior fontanelle and contiguous sutures using computed tomography, in silico models of modern infants.

The aim of this study is to quantify and statistically model the age-related decline in the fibrous connective tissue interface of the anterior fontanelle in modern Australian infants, using three-dimensional, semi-automated computed-assisted design protocols. Non-linear regression with variance models, using power functions, combined with quantile regression of the 5th and 95th population percentiles, were utilised to assess absolute anterior fontanelle surface area (AFSA) as a function of age, using multi-slice cranial computed tomography scans obtained from 256 infants aged <30months (males: n=126, females: n=109) from Brisbane children's hospitals. Normalised AFSA (NFSA), standardised for variation in cephalic size, followed a progressive decline from birth, the greatest velocity change occurring between the 3-6 and 6-9 month cohorts. Growth of the neurocranium is the most significant within the first 8months postpartum, with a mean increase of 19.03mm in maximum cranial length and 10.04mm in breadth. Directionality of fontanelle closure, quantified using spline curves refutes fundamental assumptions that the anterior fontanelle is consistent with a quadrilateral, and contiguous sutures exhibit constant velocity of closure. The present study provides normative values for fontanelle size and diameters as well as new predictive non-linear models for age substantiation, screening of developmental abnormalities and indicators of suspected child maltreatment in modern infants aged birth to 30months.

Modeling the effect of brain growth on cranial bones using finite-element analysis and geometric morphometrics.

Brain expansion during ontogeny has been identified as a key factor for explaining the growth pattern of neurocranial bones. However, the dynamics of this relation are only partially understood and a detailed characterization of integrated morphological changes of the brain and the neurocranium along ontogeny is still lacking. The aim of this study was to model the effect of brain growth on cranial bones by means of finite-element analysis (FEA) and geometric morphometric techniques. First, we described the postnatal changes in brain size and shape by digitizing coordinates of 3D semilandmarks on cranial endocasts, as a proxy of brain, segmented from CT-scans of an ontogenetic sample. Then, two scenarios of brain growth were simulated: one in which brain volume increases with the same magnitude in all directions, and other that includes the information on the relative expansion of brain regions obtained from morphometric analysis. Results indicate that in the first model, in which a uniform pressure is applied, the largest displacements were localized in the sutures, especially in the anterior and posterior fontanels, as well as the metopic suture. When information of brain relative growth was introduced into the model, displacements were also concentrated in the lambda region although the values along both sides of the neurocranium (parietal and temporal bones) were larger than under the first scenario. In sum, we propose a realistic approach to the use of FEA based on morphometric data that offered different results to more simplified models.

Congenital dermoid inclusion cyst over the anterior fontanel in Chinese children.

Congenital dermoid inclusion cyst (CDIC) over the anterior fontanel is a rare and benign tumor. This study reports nine Chinese cases (three females and six males) with CDIC over the anterior fontanel. The clinical manifestations and imaging were analyzed retrospectively. Surgical resection was undertaken in all cases. The diagnosis of CDIC over the anterior fontanel was confirmed by histological examination. The cysts were all noticed soon after birth and enlarged gradually. They were soft, nontender with a sessile base without inflammatory signs and breaking. Computed tomography (CT) and magnetic resonance imaging (MRI) revealed soft tissue mass over the anterior fontanel without intracranial extensions. The histopathological examination displayed stratified squamous epithelium with skin appendages. There were no complications or recurrence after operation during a follow-up for one year. CDIC over the anterior fontanel is a benign tumor. Imaging is recommended preoperatively to aid differential diagnosis. The main management is total excision with good prognosis.

Case 1: A Term Male Infant with Hypoglycemia and Hyperbilirubinemia as Initial Presentation

A white male infant is born at term via spontaneous vaginal delivery to a 28-year-old woman at an outside facility. The parents do not have a consanguineous relationship, and the mother has had no pregnancy or delivery complications. The neonate weighs 3,170 g (11th–25th percentile), with a head circumference of 33.5 cm (4th–10th percentile) and length of 54.5 cm (76th–90th percentile). His skin is pale and multiple cafe-au-lait spots are found on his torso and extremities. He has micrognathia with an elongated head shape, a prominent occiput, and a flat anterior fontanelle. He is admitted to the NICU for hypoglycemia and receives antibiotics for 48 hours while sepsis is ruled out. Herpes simplex virus, cytomegalovirus, and peripheral blood cultures are negative. He continues to have refractory hypoglycemia and further tests reveal significant elevated γ-glutamyl transpeptidase (GGT) relative to mildly elevated aspartate aminotransferase (AST) and alanine aminotransferase (ALT), elevated direct hyperbilirubinemia, and mildly prolonged coagulation studies. Abdominal ultrasonography findings are normal. At 6 days of age, he begins to feed poorly so a nasogastric tube is placed for enteral feeds. The following day he is transferred to our facility for specialty consultation because of persistent hyperbilirubinemia and significantly elevated GGT. Upon admission to our unit he is noted to be an alert, active infant with normal male genitalia, but has bronze-colored skin and a large anterior fontanelle. His laboratory findings on admission reveal the following: sodium, 136 mEq/L (136 mmol/L); potassium, 6.9 mEq/L (6 mmol/L); chloride, 19 mEq/L (19 mmol/L); AST, 138 U/L (2.3 μkat/L); ALT, 97 U/L (1.6 μkat/L); …

A new endangered species of Megaleporinus (Characiformes: Anostomidae) from the Rio de Contas basin, eastern Brazil.

A new species of Megaleporinus is described from the Rio de Contas, a coastal drainage of eastern Brazil, and its phylogenetic relationships are studied using molecular data. The new species is unique among Anostomidae by possessing two exclusive features: an irregular dark longitudinal stripe from supracleithrum to second midlateral blotch and anterior cranial fontanel partially closed. In addition, the new species is diagnosed by having three premaxillary teeth, three dentary teeth, 37 or 38 scales in lateral line, 16 scale rows around caudal peduncle, three dark midlateral blotches on body, and red fins in life. The new species is closely related to M. obtusidens from the São Francisco basin, corroborating previous studies that indicated that the latter represents a species complex as currently defined. The new species exhibits the first rib enlarged in mature males, a feature described for some congeners. The new species is herein considered to be Endangered under the IUCN criteria.

Modeling of Neonatal Skull Development Using Computed Tomography Images

Neonatal skull anatomy and its evolution have received less attention with respect to the brain anatomy in neuroscience and neuroanatomy studies. Meanwhile, their influence on normal brain development and their impact on the results of functional brain studies have been demonstrated by several researches. Such disesteem is due to the weak appearance of the cranial bones, fontanels and sutures in images acquired by MRI which presents actually the only available aperture for observing the neonatal head volume in details. This paper presents an unprecedented retrospective CT-based study on modeling the neonatal skull and its development during the first weeks of life in a standard space defined by the available neonatal MRI model. We create two neonatal head atlases for the age ranges of 39-40 and 41-42 week's gestational age using symmetric group-wise normalization method. The created atlases allow direct observation of ossification patterns and precise three-dimensional measurement of anatomical features from neonatal skull during development. Development of the neonatal skull has been examined here using nineteen CT scans of neonates with two-week gestational age ranges of 39 to 40 and 41 to 42. Deformation-based morphometry method is applied with the use of Jacobian determinant maps to identify growth patterns and observe ossification during specified time interval. Precise three-dimensional measurements of anterior fontanel size, scalp eliminated head circumference and the area corresponding to the fontanel-sutures were performed by extracting fontanels and sutures.

A novel SPECC1L mutation causing Teebi hypertelorism syndrome: Expanding phenotypic and genetic spectrum

Only eleven SPECC1L mutations have been reported worldwide which were associated with autosomal dominant oblique facial clefts, Opitz G/BBB Syndrome and Teebi hypertelorism syndrome. In this study, we reported the first Chinese patient with Teebi hypertelorism syndrome. Utilizing whole exome sequencing and Sanger sequencing, we identified a de novo missense mutation NM_015330.3: c.1249A > C, p.(Thr417Pro) in SPECC1L gene. With common manifestations in Teebi hypertelorism syndrome such as special facial appearance, umbilical malformations and congenital heart defects, the patient also had unusual symptoms including recurrent infections, febrile seizures and widely opened anterior fontanelle. Furthermore, all the recorded SPECC1L mutations were analyzed by in silico analysis. Coiled-coil domain 2 was the most frequently mutated domain and positions e and g might be more important than other positions. This paper expanded the phenotypic spectrum of Teebi hypertelorism syndrome and elaborated molecular characteristics of SPECC1L mutations.

METABOLIC DISEASE : DEFICIT IN ORNITHINE CARBAMYL TRANSFERASE ABOUT AN OBSERVATIONAL CASE

Introduction The deficiency in ornithine carbamyl transferase (OCT) is an enzyme deficiency transmitted in the recessive or dominant mode associated with X. Complete deficit is still expressed in hemizygous boys in a very severe and often fatal neonatal hyperammonic coma. We report a clinical case of a revelation of an OCT enzyme deficiency in a newborn. Observation This is a female newborn, a premature mother and a scheduled caesarean delivery. At J7 of life, neonatal hypotonia appeared, stable on the liver and respiratory level. The anterior fontanelle is normotendue, with a malformative balance without peculiarities. The lumbar puncture performed is normal. The biochemical assessment carried out showed low uremia, hypocalcemia and very high hyperammoniemia. Viral and bacterial serologies were negative. The hemogram performed was normal, the hemostasis balance showed a low TP with an elongated TCA and decreased fibrinogen. Factor V was collapsed with a value of 21%. The patient was hospitalized in neonatal resuscitation. The chromatography of the amino acids was able to confirm a metabolic disease whose diagnosis is an OCT deficiency. Conclusion The expression of hereditary metabolic diseases in the neonatal period is not very specific. Metabolic exploration should be systematically in the face of any situation of neonatal distress.