Ventriculoperitoneal Shunting in Alobar Holoprosencephaly: Does it Work Even When Patient Has No Sign of Raised Intracranial Pressure?

Holoprosencephaly (HPE) is a developmental anomaly of forebrain characterized by a failure of division of the embryonic forebrain into hemispheres. It is associated with a set of facial anomalies at a rate of 80%. Survival rate, particularly in alobar HPE, is quite low. Alobar HPE is usually associated with a large dorsal cyst which might eventually lead to hydrocephalus and raised intracranial pressure. Placement of ventriculoperitoneal (VP) shunt has been reported to be beneficial in symptomatic hydrocephalus accompanying HPE. Here we report a preterm infant born with alobar HPE and undergoing VP shunt placement although there was no sign of raised intracranial pressure. She is 12 months old now having near-normal developmental progress. This case has revealed that the placement of VP shunt, particularly inserting the catheter tip into dorsal cyst of HPE, might be beneficial and contribute to the survival and further brain development even in the absence of the signs of raised intracranial pressure.

Pyriform aperture enlargement in all aspects.

BACKGROUND: The pyriform aperture comprises the central area of facial bone structure. It is formed by the free corners of the nasal bone and the frontal processes of the maxillae, which articulate with each other at the nasomaxillary suture lines. Congenital nasal pyriform aperture stenosis might be linked to various craniofacial problems. This review presents all aspects of pyriform aperture stenosis and enlargement. METHODS: A literature search was conducted. Pyriform aperture definition, nasal development, congenital nasal pyriform aperture stenosis and pyriform aperture enlargement were reviewed. RESULTS: One of the most common abnormalities is holoprosencephaly, which is a midline developmental deficiency that may also be present in combination with facial clefting. The aetiology of nasal pyriform aperture stenosis remains unclear. When diagnosed, the choice of treatment is between non-surgical and operative methods, depending on the seriousness of the problem. Provided the sufferer can maintain a secure air passage with the help of specialised medical procedures and respiratory tract adjuvants, operative therapy may be delayed. CONCLUSION: The operative outcomes are extremely good, and the prognosis relies mainly on coexisting neural and endocrine problems. This paper evaluates the nasal pyriform aperture in detail.

Holoprosencephaly: antenatal and postnatal diagnosis and outcome.

OBJECTIVES: The objectives of this study are to ascertain the clinical outcome and overall survival of holoprosencephaly (HPE) patients diagnosed antenatally and postnatally, to determine the accuracy of antenatal diagnosis and to determine the role of neurosurgical intervention in HPE. DESIGN: This is a retrospective review over a 10-year period. PATIENTS: Sixty-three patients were included in the study, 45 were diagnosed by antenatal radiological imaging and 18 were diagnosed by postnatal radiological imaging. Patient data was drawn from Temple Street Children's University Hospital (the national paediatric neurosurgery centre), the National Maternity Hospital in Holle's Street, Dublin, and Our Lady of Sick Children Hospital, Dublin. METHODS: The study was carried out through a review of antenatal and postnatal radiological imaging and reports, clinical charts, GP letters from patient follow-up and telephone conversations with parents of HPE patients. RESULTS: Four patients in the antenatal diagnosis group had follow-up foetal MRI confirming HPE. Twelve in this group had radiological follow-up postnatally, and in five of these, HPE was confirmed. The remaining seven were identified as false positive. Alobar HPE constituted 55 % (21/38) of patients with 95 % mortality. Fifty-one percent had a normal karyotype. The overall survival in the antenatal diagnosis group was 13 %. In the postnatal group, 18 patients were identified, 67 % (12/18) lobar and 33 % (6/18) semilobar. Normal karyotype was found in 72 % (13/18), with an overall survival rate of 56 % (10/18). Neurosurgical intervention in both groups mainly consisted of CSF diversion in the form of ventriculoperitoneal (VP) or cystoperitoneal shunt (CP) (13/67). CONCLUSION: Foetal MRI should be routinely performed in suspected cases of HPE, and reliance on ultrasound alone in the antenatal period may not be sufficient. In our study, there is a high early mortality noted in severe cases of HPE, while milder forms of HPE in children tend to survive beyond infancy albeit with associated complications that required neurosurgical intervention and medical management for other associated systemic anomalies.

A shift from the osteocutaneous fibula flap to the prelaminated osteomucosal fibula flap for maxillary reconstruction.

BACKGROUND: Reconstruction of the maxilla with the fibula free flap is a popular and well-described technique. The ideal intraoral lining would be mucosa, which is moist, thin, and non-hair-bearing. Prelamination of the fibula with buccal mucosa replaces like tissue with like tissue, obviates the need for a skin paddle, and facilitates placement of osseointegrated implants in a single stage. For central maxillary defects, the authors have shifted from using an osteocutaneous to a prelaminated free fibula flap. In this article, the authors report their experience using the prelaminated osteomucosal fibula for maxillary reconstruction. METHODS: From 2003 to 2011, 24 patients underwent reconstruction of a central maxillary defect using a free fibula flap. The first 10 patients had osteoseptocutaneous flaps, and the other 14 patients had prelaminated flaps. Data collected included patient age, cause of defect, type and number of operations, complications at both the donor and recipient sites, and placement of osseointegrated implants. RESULTS: The majority of patients in the series (n = 21) had central maxillary defects caused by loss of the premaxilla during early repair of bilateral cleft lip-cleft palate. There was one flap failure in the nonprelaminated flap group and one in the prelaminated group. Repeated debulking to thin the skin paddle was required in all of the patients with osteocutaneous flaps. CONCLUSIONS: Prelamination delivers like tissue to the recipient site, obviates the need for debulking, and may reduce donor-site wound problems. To the authors' knowledge, this is the largest series of prelaminated fibulas for maxillary reconstruction in the literature. CLINICAL QUESTION/LEVEL OF EVIDENCE: Therapeutic, IV.

Congenital partial arhinia: a rare malformation of the nose coexisting with holoprosencephaly.

Complete or partial arhinia is a rare defect of embryogenesis characterized by congenital absence of the soft tissue of the nose and nasal structures. It is generally associated with other craniofacial or somatic anomalies, including midline defects such as cleft palate, highly arched palate, absence of paranasal sinuses, and palatal and ocular abnormalities. Less than 40 patients with arhinia have been reported so far[],[]. We report herein on a patient with partial arhinia and holoprosencephaly presenting with respiratory insufficiency and diabetes insipidus.

Two cases of single-stage lip and nostril reconstruction in holoprosencephaly.

Holoprosencephaly is a rare disorder of embryological development that presents with midline clefting of the lip. The incidence has been estimated at approximately 1 in 15,000. Previously, infants with severe holoprosencephaly were thought to die within 1-2 years of birth and seldom to benefit from surgery. Survival has increased with improved perinatal care and support services. Parents often request complete cheiloplasty, because the presence of a columella greatly influences aesthetic outcome. The authors report two cases of simultaneous columella reconstruction with cheiloplasty.

Surgical correction of Tessier number 0 cleft.

The no. 0-14 cleft involves the midline of the face and cranium. It may include both a true and a false median cleft lip, with or without associated hypotelorism or hypertelorism. The no. 0 cleft is the most common of the craniofacial clefts. The objective of this study was to review the functional outcome and aesthetic results of the different techniques applied for each case. We have conducted a retrospective analysis of our series consisting of 32 cases of Tessier no. 0 cleft, in the period between 1997 and 2007. The patients were divided into 2 groups: those with the true median cleft and those with the false median cleft. The clinical findings, lip malformation, alveolar cleft, nasal appearance, septal involvement, associated deformities, and surgical procedures, were all reviewed. Holoprosencephaly was present in 9 cases, with a false median cleft upper lip and an absence of the premaxilla, septum, and columella (only 1 patient underwent lip and columella reconstruction at 2 years of age). Nine patients had an incomplete median cleft lip. Seven of these cases had associated median alveolar cleft, and 1 had an intranasal tumor, associated with lipoma of corpus callosum, characteristic of the Pai syndrome. Six cases of a bifid nose were seen, 2 of which were associated with an alveolar median cleft and hypertelorism. An isolated median alveolar cleft was present in 7 cases, 2 of them associated with a no. 30 cleft. This article presents a large series of Tessier no. 0 cleft, describing the differences between the false and the true median cleft. The surgical procedures may vary in relation to the type of involvement.

Atypical synophthalmos with arhinencephaly unilateralis.

This article describes a rare case of a 4-month-old infant with atypical synophthalmos with ipsilateral arhinencephaly unilateralis, ethmoid sinus, and lacrimal apparatus and brain abnormalities--diagnosed on the basis of the clinical picture and imaging findings.

Construction of the congenitally missing columella in midline clefts.

BACKGROUND: Repair of the rare median cleft lip occurring with agenesis of the columella is a challenge as there is a major deficiency of skin and underlying structures. MATERIAL AND METHODS: Over a 23- year period, five children underwent construction of a columella. A new surgical technique was designed for this: an internal dorsal nasal flap was used to create a cutaneous-cartilaginous flap inside the nasal dome, and was then sutured inferiorly against a superior triangle of the repaired median cleft lip. RESULTS: Projective nasal growth could be seen in three of the five surgically constructed columellae in whom the medium-term results could be evaluated. CONCLUSION: Five holoprosencephaly cases, all with a median cleft lip and agenesis of the columella, underwent a median cleft lip repair and the creation of a columella by means of an internal nasal dorsal skin flap procedure.

Syndrome of inappropriate antidiuretic hormone secretion and diabetes insipidus in an infant following surgery.

Syndrome of inappropriate secretion of antidiuretic hormone and diabetes insipidus occurring in very short order in the same patient is rare. We report a 9 month-old male infant suffering form holoprosencephaly developed syndrome of inappropriate secretion of antidiuretic hormone followed by diabetes insipidus within a relative short time postoperatively after his third operation. Inability to suppress as well as to stimulate arginine vasopressin secretion and anesthetic and surgical stresses, were thought to be the possible causes of this event.

Atypical midline cleft with duplication of the metopic suture.

INTRODUCTION: In contrast to the common clefts of the lip, alveolus and palate, the atypical clefts of the face may come in myriad patterns of clinical expression and are often not easy to define. PURPOSE: In this report, a case of median craniofacial dysraphia is described. PATIENT: At presentation, the 3-month-old male patient had a bilateral complete cleft of the lip, alveolus and palate. The nose was wide and a horn was present on the nasal dorsum. 3-D CT AND MRI REVEALED: Duplication of the metopic suture ending at the wide anterior fontanel; orbital hypertelorism; midline cranial cleft ending just superior to the nasal dorsum; frontoethmoidal encephalocoele and holoprosencephaly. The presence of two metopic sutures was confirmed during surgery. CONCLUSION: The presented case carries the characteristics of the median cleft face syndrome. However, it differs from similar cases in two respects. First, the patient had two metopic sutures, one on either side of the cranial extension of the median cleft. Second, the patient had a bilateral cleft lip in contrast to the expected median cleft lip deformity.

Cranial vault reduction cranioplasty in children with hydrocephalic macrocephaly.

Craniofacial surgeons are rarely presented patients with extreme hydrocephalic macrocephaly due to early diagnosis and treatment of the hydrocephalus. Macrocephaly can significantly limit or prohibit mobility, hygiene and can drastically change lifestyle and developmental issues. The authors herein report on four consecutive total cranial vault reduction cranioplasty procedures for correction of hydrocephalic macrocephaly. The patients had a reduction in cranial volume ranging from 111-641 mL. All patients survived the procedure. Improvement in head control and aesthetics were improved in all patients. All of the patients required at least one shunt revision following the procedure. We conclude that total cranial vault reshaping is safe and effective for the treatment of macrocephaly secondary to hydrocephalus.

Correction of massive hydrocephalus and brain wound in holoprosencephaly.

Holoprosencephaly is a rare disorder of embryologic development that denotes an incomplete or absent division of the embryonic forebrain (prosencephalon) into distinct lateral cerebral hemispheres. In most cases of holoprosencephaly, the fetus fails to survive to term, and those that do survive have severe functional limitations, including mental retardation. We present a case report of cranial vault remodeling in a 20-month-old female who was born with holoprosencephaly and a severe number 0/14 cleft. The patient developed chronic nonhealing ulcers secondary to hydrocephalus, ventriculoperitoneal shunts, and the underlying architecture of her cranial vault.

Bilateral persistent fetal vasculature associated with holoprosencephaly.

A 3.26-kg neonate with a gestational age of 40 weeks presented with episodic hypothermia and seizures, but stable vital signs. Semilobar holoprosencephaly was seen on magnetic resonance imaging. Ocular examination revealed bilateral persistent fetal vasculature. As genetic testing was not contributory, toxic intrauterine environmental insulin causing neurologic maldevelopment was the presumed etiology.

Plastic surgery considerations for holoprosencephaly patients.

Holoprosencephaly (HPE) is considered the leading abnormality of the brain and face in humans and is frequently associated with a wide spectrum of specific craniofacial anomalies including mid-line facial clefts, cyclopia and nasal irregularities. A standard course of treatment has not been developed and management is symptomatic and supportive. In this work, the authors discuss the wide-ranging spectrum of HPE and propose surgical guidelines to provide more uniform and appropriate care to patients suffering from holoprosencephaly. Assessment of the patient's brain abnormality is essential in determining the extent and benefit of surgical intervention. The authors discuss a median straight-line repair of the lip and repair of the anterior palate in a one-year old female and review the risks and benefits of surgery. Consistent with the ethical approach of surgical beneficence, the authors recommend intervention at the earliest possible time.

Recurrent bradycardia and delayed recovery in a neonate following repair of nasofrontal encephalocoele with holoprosencephaly and single cerebral ventricle.

Holoprosencephaly and single cerebral ventricle are uncommon congenital anomalies that are associated with a high rate of perinatal mortality. We describe a neonate who developed recurrent bradycardia along with delayed recovery following frontal craniotomy for the repair of a nasofrontal encephalocoele associated with holoprosencephaly and a single cerebral ventricle. The neonate, however, recovered following elective ventilation. Etiopathogenesis and management of such complications are discussed.

The role of cephalocentesis in modern obstetrics.

OBJECTIVE: Destructive procedures to permit vaginal delivery of the fetus with hydrocephalus are rarely performed. STUDY DESIGN: We performed intrapartum cephalocentesis in 3 cases in which alobar holoprosencephaly was diagnosed in the third trimester. RESULTS: All 3 fetuses were stillborn. Two delivered vaginally, and one delivered abdominally with a lower uterine incision. CONCLUSIONS: A reappraisal of the proper role of cephalocentesis in modern obstetrics is offered.

Airway obstruction due to a rudimentary premaxilla in holoprosencephaly.

OBJECTIVE: We present two infants with holoprosencephaly and clefts of the primary palate, who developed nasal airway obstruction due to a previously undocumented cause: a ball-valve-like action of a rudimentary premaxilla, which was extremely mobile on a soft tissue stalk. In such patients, the importance of intranasal examination to identify a rudimentary premaxilla, in order to preserve it, and if necessary, surgically stabilize it, is illustrated.