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.

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.

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.

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.

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.

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.

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.

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 survival and performance.

Parents of children with holoprosencephaly often have been told that their children will die within days or weeks. When this does not happen, they are distrustful of the information they have received and want to know what they can really expect and how they can cope with the many problems these children have. We have recorded our experiences and gleanings from the literature with regard to survival and performance of these children. Survival data were obtained from 62 cases of alobar holoprosencephaly known to us or to our colleagues. Performance data were obtained on 35 survivors, by direct examination and/or detailed parent questionnaires and interviews.

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.

Holoprosencephaly and midline facial anomalies: redefining classification and management.

Holoprosencephaly encompasses a series of midline defects of the brain and face. Most cases are associated with severe malformations of the brain which are incompatible with life. At the other end of the spectrum, however, are patients with midline facial defects and normal or near-normal brain development. Although some are mentally retarded, others have the potential for achieving near-normal mentality and a full life expectancy. The latter patients do not fit clearly into the previously defined classification system. Proposed is a new classification focusing on those patients with normal or lobar brain morphology but with a wide range of facial anomalies. The classification aids in planning treatment. Coupled with CT scan findings of the brain and a period of observation, patients unlikely to thrive can be distinguished from those who will benefit from surgical intervention. Repair of the false median cleft lip and palate may suffice in patients with moderate mental retardation. Patients exhibiting normal or near-normal mentality with hypotelorbitism and nasomaxillary hypoplasia can be treated with a simultaneous midface advancement, facial bipartition expansion, and nasal reconstruction.

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.

Columella reconstruction in midline facial cleft: a case report.

Columella reconstruction in a case of midline cleft of lip alveolus and palate with nasomaxillary hypoplasia is described. The use of an Abbe flap to provide locally available tissue for reconstruction is discussed.

[Anesthetic experience of two patients with holoprosencephaly].

We experienced anesthetic management of two 6-month-old female patients with holoprosencephaly (HP). HP is characterized by hypoplasia of prosencephalon, facial anomalies (hypotelorism, flat nose, and/or small prolabium), abnormality of autonomic nervous system functions (hypernatremia and/or poikilothermia), and clonic convulsion. First case was a lobar type and the second case was an alobar type according to DeMyer's classification. In both cases repair of bilateral cleft lip was performed. Anesthesia was slowly induced with N2O-O2-halothane and maintained with fentanyl in N2O-O2. Body temperature (BT) was adjusted with a warming blanket while monitoring rectal temperature. In the first case clonic convulsion and bradycardias occurred during the postoperative period, which were treated with IV diazepam and isoproterenol. In the second case BT rose to 39 degrees C during postoperative period; 2 episodes of convulsions were observed; and airway obstruction occurred. They were treated accordingly. The most important points which should be kept in mind in the management of HP patients are the prevention of convulsion, adjustment of BT, maintenance of normal pulse rate and keeping a patient airway.

[Perioperative considerations for a holoprosencephaly patient].

We had twelve anesthetic experiences of seven holoprosencephaly patients for the past thirteen years. We classified these seven patients and compared the difficulty in perioperative control in the patients. Seven patients were divided according to two different holoprosencephaly classifications, one is that by DeMyer and the other by Osaka. We studied them retrospectively about airway management, the control of convulsion or instability of body temperature, and so on. Case of abortive type had nothing particular to be considered about, but cases of semilober type which had more severe brain anomaly, required careful respiratory management, due to their immature nasopharyngeal function. Concerning the convulsion or body temperature, cases of semilober type were difficult to control. When we anesthetize these holoprosencephaly patients, we must consider the classification of the anomaly and clinical conditions in each case. Especially, in cases of semilober types, prudent treatment is needed thoughout the perioperative period.

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.

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.

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.