Management of Tracheobronchial Stenosis in Chondrodysplasia Punctata.

Chondrodysplasia punctata (CDP) is a rare congenital syndrome characterized by aberrant, punctate deposition of calcium during endochondral bone formation, resulting in the characteristic finding of epiphyseal stippling on radiographs. While otolaryngologic manifestations such as nasomaxillary hypoplasia and mixed hearing loss are common, tracheobronchial calcification occurs rarely in neonates with CDP. The management of CDP-related airway stenosis is complex and there is limited literature pertaining to outcomes of airway interventions. Herein, we describe the clinical course and outcome of tracheal dilation for a newborn patient with CDP. Laryngoscope, 134:1464-1468, 2024.

Conradi-Hünermann-Happle syndrome associated with severe hypocalcemia in a newborn.

Conradi-Hünermann-Happle syndrome is rare X-linked dominant syndrome associated with stippled epiphyseal calcifications, congenital cataracts, Blaschkoid ichthyosiform scaling, and follicular atrophoderma. This case describes a novel finding of hypocalcemia and hypoparathyroidism in an infant with Conradi-Hünermann-Happle syndrome.

Posterior and Anterior Fusion for Severe Cervical Kyphosis in a Patient with Chondrodysplasia Punctata: A Case Report.

CASE: A 4-year-old girl with spastic gait and hand clumsiness who was diagnosed with cervical myelopathy caused by atlantoaxial dislocation and midcervical severe kyphosis associated with chondrodysplasia punctata (CDP). The patient underwent posterior instrumentation and anterior spinal fusion and successful correction with osseous fusion was obtained 8 months after surgery. In addition, the preoperative neurological symptoms were completely recovered. CONCLUSION: Owing to the characteristics of CDP, the treatment for the cervical lesion is extremely complicated. Successful stabilization and improvement of the neurological symptom were achieved by combining posterior and anterior fusion with instrumentation in this case.

Novel use of the Cochlear® Hybrid CI24REH cochlear implant.

Cochlear implantation is becoming more widespread. From its early days to date, huge strides have been made in the technology and surgical technique. However, one challenge remains: implanting malformed or abnormal cochleae. Even more challenging is a cochlea that appears normal at first glance, but is not. We present a case of a child with chondrodysplasia punctata, who had apparently morphologically normal inner ears, but with one major obstacle: the cochlea was smaller than normal in all dimensions. To the best of our knowledge, this is the first case described, and the solution is a novel one as well.

Occipitocervical Fusion for Severe Atlantoaxial Dislocation in an Underdeveloped Child with Chondrodysplasia Punctata: A Case Report.

CASE: We present a case of brachytelephalangic chondrodysplasia punctata with a severe atlantoaxial dislocation in an underdeveloped child. The patient underwent halo jacket application using 10 halo pins with <1 lb/in of torque, followed by posterior occipitocervical fusion with onlay rib and iliac autografts. After bone grafts and replacement of the halo ring multiple times, successful osseous fusion had been achieved by the 2-year follow-up. CONCLUSION: Although simple bone-grafting with a halo jacket is useful in underdeveloped patients with skeletal dysplasia, the complications related to halo fixation, including cranial bone perforation, and the patient's neurological status must be carefully monitored.

Surgical management of cervical spine deformity in chondrodysplasia punctata.

OBJECTIVE Chondrodysplasia punctata (CDP), a rare skeletal dysplasia, can lead to cervical spine instability and deformity. However, an optimal neurosurgical intervention has yet to be established. Thus, a retrospective study was conducted to assess the efficacy of various surgical interventions for children with CDP. METHODS The authors retrospectively reviewed 9 cases of CDP in which cervical decompression with or without posterior fusion was performed between April 2007 and May 2016. Patient demographics, preoperative clinical conditions, radiographic findings, surgical procedures, and the postoperative course were analyzed in detail. RESULTS A total of 12 operations were carried out in 9 patients (8 male, 1 female) during the study period. The patients' ages at the initial surgery ranged from 2 months to 2 years. Seven of the children had CDPX1, 1 had CDPX2, and 1 had tibia-metacarpal type CDP (CDP-TM). The lesion occurred at the craniovertebral junction (CVJ) in 7 cases and involved a subaxial deformity in 2 cases. The initial surgery was C-1 laminectomy with occipitocervical fusion (OCF) followed by halo external fixation in 5 cases, OCF alone in 1 case, and C-1 laminectomy alone in 3 cases. Three children required additional surgery. In one of these cases, a staged operation was required because the patient's head was too small to attach a halo ring at the time of the initial procedure (C-1 laminectomy). In another case, OCF was performed 11 months after C-1 laminectomy because of intramedullary signal change on serial MRI, although the child remained asymptomatic. In the third case, additional posterior fusion was performed 17 months after an initial laminectomy and OCF due to newly developed cervical dislocation caudal to the original fusion. This last patient required a third operation 9 months after the second because of deep wound infection. Surgery improved the motor function of all 7 children with CDPX1, but 3 children who had already suffered respiratory failure preoperatively required continued respiratory support. At the time of this report, 7 of the 9 children were alive and in stable condition. One child died due to restrictive respiratory insufficiency, and another died in an accident unrelated to CDP. CONCLUSIONS Surgical decompression with or without fusion for CVJ and subaxial cervical lesions in infants and toddlers with CDP generally saves lives and increases the likelihood of motor function recovery. However, in this case series the patients' preoperative condition had a strong effect on postoperative respiratory function. The surgery was not straightforward, and a second operation was required in some cases. Nevertheless, the findings indicate that early surgical intervention for CDP with cervical involvement is feasible, suggesting that the role of neurosurgery should be reevaluated.

Concurrent Chondrodysplasia Punctata Type 2 (Conradi-Hunermann-Happle Syndrome) and Ichthyosis Vulgaris in Teenaged Twin Girls.

We present concurrent X-linked chondrodysplasia punctata and ichthyosis vulgaris in adolescent fraternal twin girls, notable for initial presentation with dry skin in adolescence, characterized by dark-brown scale typical of ichthyosis vulgaris and blaschkolinear, atrophic, scaly plaques. This constellation of findings prompted further genetic investigation. Using a multigene approach to examine 39 genes associated with congenital ichthyosis, next-generation sequencing revealed a novel heterozygous missense mutation at a mutational hotspot in the EBP gene c.439C>T (p.R147C) in conjunction with a single nonsense mutation in the FLG gene (p.R501X) in both sisters. These individuals highlight the clinical variability of Conradi-Hunermann-Happle syndrome, illustrate the possibility of co-occurrence of rare and common forms of ichthyosis, and demonstrate the utility of multigene analysis.

Chondrodysplasia punctata presenting with tracheal obstruction.

Chondrodysplasia punctata is a group of congenital bone and cartilage disorders characterized by erratic calcification during development. Laryngeal and tracheal calcification and subsequent stenosis, while being reported in several cases of chondrodysplasia punctata, are not frequent findings and there are no proposed management techniques. We describe here a case of an infant with chondrodysplasia punctata associated to tracheal stenosis that was successfully treated with balloon dilation, and with long term follow-up.

Tympanoplasty for chondrodysplasia punctata: Case report.

Chondrodysplasia punctata (CP) is a systemic disorder of chondrogenesis. The most prominent features of patients with CP are abnormal faces characterized by a flat nose and short stature. CP patients show various types and levels of hearing loss. This disease is rare, and no successful tympanoplasties with hearing recovery have been reported. Here, we report on a CP case, in which hearing recovery was successfully treated with tympanoplasty.

Ocular manifestations of genetic skin disorders.

Genetic skin diseases, or genodermatoses, often have extracutaneous manifestations. Ocular manifestations in particular can have significant clinical implications, like blindness. Other manifestations, such as the corneal opacities that occur in X-linked ichthyosis, are asymptomatic but characteristic of a particular genodermatosis. Ophthalmologic examination can aid in diagnosis when characteristic findings are seen. The genodermatoses with ocular manifestations will be reviewed, but neurocutaneous, syndromes, genetic pigmentary disorders, and genetic metabolic diseases are not included because they are covered elsewhere in this issue.

Effect of Intrathecal Baclofen on Delayed-Onset Paroxysmal Dystonia due to Compression Injury Resulting From Congenital and Progressive Spinal Bone Deformities in Chondrodysplasia Punctata.

BACKGROUND: Dystonia due to spinal lesions in adult patients is characterized by the provocation and/or amelioration of the spasm by somatosensory stimulation with a sensory trick. PATIENT DESCRIPTION: An infant with brachytelephalangic chondrodysplasia punctata developed flaccid tetraplegia due to cervical cord compression resulting from congenital atlantoaxial dislocation. Episodic, tonic extension of the extremities, neck, and trunk had appeared daily since age two years and was often provoked by tactile stimulation. Although decompression surgery was performed at age three years, progressive spinal deformity resulted in the aggravation of episodic dystonia thereafter, lasting for hours. Foot dorsiflexion and wearing a truncal brace for scoliosis inhibited these spasms. Intrathecal baclofen bolus injection transiently ameliorated the paroxysmal dystonia and detrusor-sphincter dyssynergia in the lower urinary tract. CONCLUSION: Paroxysmal dystonia is unusual in children with spinal cord lesions; however, it should be recognized for appropriate individualized clinical management.

Calcification and airway stenosis in a child with chondrodysplasia calcificans punctata.

Calcification of the airways is rarely seen in children. A male baby was born at 34 weeks with severe respiratory distress. Intubation was difficult with severe hypercarbia after intubation. Chest radiography demonstrated calcification in the tracheobronchial tree and this was confirmed with Chest CT scan. Flexible bronchoscopy confirmed long-segment funnel tracheal stenosis with visible calcifications in the trachea and bronchi. Chondrodysplasia punctata was diagnosed based on the clinical and radiological findings.

Condrodisplasia «punctata» rizomélica clásica: comunicación de dos casos con las formas grave y benigna de la afección / Classic rhizomelic chondrodysplasia punctata: report of 2 cases with two forms of the disease

La condrodisplasia punctata rizomélica clásica (RCDP) es una rara enfermedad multisistémica autosómica recesiva, debida a una alteración del metabolismo peroxisomal que determina una deficiencia de la biosíntesis de plasmalógenos y de la alfaoxidación del ácido fitánico. Se caracteriza por la presencia desde el nacimiento de un acortamiento proximal de las extremidades, calcificaciones periarticulares, dismorfia facial, retraso del desarrollo y mortalidad precoz. Se presentan dos casos de RCDP clásica, o tipo I, con las dos formas clínicas de presentación, grave o mortal y leve o benigna, en relación con la existencia de actividad enzimática residual, y se revisan sus principales aspectos clínicos(AU)

Classic rhizomelic chondrodysplasia punctata (CRCP) is a rare multisystem disease, autosomal recessive disorder. It is due because a peroxisomal metabolism alteration that determine deficiency of the plasmalogen biosynthesis and the alpha oxidation of phytanic acid. It is characterized by proximal shortening of the limbs, punctuate calcifications of the epiphyses, facial dysmorphia, developmental delay and early lethality. We present two cases of CRCP type I with two different forms of presentation, one severe and another one mild or bening, in relation with the residual enzyme activity and we revise the main clinical aspects(AU)

Prenatal diagnosis of cervical spinal cord compression in chondrodysplasia punctata brachytelephalangic type: A case report and literature review.

Chondrodysplasia punctata brachytelephalangic type is a common subset of a heterogeneous group of chondrodysplasia punctata. Most affected children generally do not have significant physical disabilities; however, a small number of patients are at risk of cervical canal stenosis with cervical cord compression leading to serious morbidity and early mortality. Very little is known about the in utero manifestation of severe complications. We report an affected child in whom the Binder phenotype was found on antenatal ultrasound and cervical spinal cord compression on fetal magnetic resonance imaging. Prenatal diagnosis of chondrodysplasia punctata brachytelephalangic type and its complications are beneficial for timely, prompt medical intervention.

Condrodisplasia punctata de Conradi-Hünermann: implicaciones anestésicas / Conradi-Hünermann Chondrodysplasia punctata: anaesthetic implications

EL síndrome de condrodisplasia punctata es un grupo de enfermedades congénitas raras que dan lugar a malformaciones, fundamentalmente esqueléticas, vinculadas con la calcificación prematura de estructuras. Existe escasa bibliografía en el ámbito de la anestesiología, pese a que algunas de sus manifestaciones clínicas, especialmente la posibilidad de una vía aérea difícil, pueden tener relevancia durante el perioperatorio. Los pacientes afectos, durante los primeros años de vida, se verán frecuentemente sometidos a cirugías frecuentes para corrección de sus malformaciones. Presentamos el tratamiento anestésico durante una intervención quirúrgica ortopédica de un paciente pediátrico afecto de una condrodisplasia punctata tipo Conradi-Hünnermann. Se destaca el tratamiento de la vía aérea mediante una mascarilla laríngea en combinación con una anestesia general balanceada con remifentanilo. Asimismo presentamos una síntesis de las características de diversas entidades de estos síndromes, con especial énfasis en los aspectos más relevantes para el anestesiólogo(AU)

Chondrodysplasia punctata syndrome is a group of rare congenital diseases that give rise to malformations, mainly skeletal, linked to the premature calcification of structures. There is little in the literature in the field of Anaesthesiology on this despite there being some clinical manifestations, particularly the possibility of difficult airway, which may be of importance during the peri-operative period. During the first years of life, the patients affected are often subjected to repeated surgery to correct their malformations. We describe the anaesthetic treatment during orthopaedic surgery of a paediatric patient with Conradi-Hünermann type chondrodysplasia punctata, highlighting the management of the airway using a laryngeal mask in combination with balanced general anaesthesia with remifentanil. We also present a review of the characteristics of the different entities of these syndromes, with special emphasis on the aspects most relevant to the anaesthesiologist(AU)

Osteopatía estriada con esclerosis craneal / Osteopathia striata with cranial sclerosis

La osteopatía estriada con esclerosis craneal es una rara enfermedad con menos de 100 casos descritos en la literatura médica. Presenta unos hallazgos radiológicos característicos que una vez identificados llevan al diagnóstico. Las estriaciones escleróticas longitudinales en huesos largos y la osteoesclerosis de los huesos faciales y del cráneo deben hacer pensar en esta entidad. No se trata de una enfermedad grave, aunque frecuentemente se asocia a otro tipo de trastornos y malformaciones extraesqueléticas que con frecuencia condicionan el pronóstico. La afectación de los huesos craneales y faciales puede producir deformación facial y discapacidad funcional marcada al afectar a los nervios craneales. Se presenta un caso de esta enfermedad descubierto de forma casual en una paciente joven estudiada en una consulta de medicina por manifestaciones clínicas en principio ajenas a esta dolencia (AU)

Osteopathia striata with cranial sclerosis is a rare disease: fewer than 100 cases have been reported. The radiologic findings of osteopathia striata are characteristic, and once they are identified, they lead to the correct diagnosis. Longitudinal sclerotic striation in long bones and osteosclerosis in facial bones should raise suspicion of osteopathia striata with cranial sclerosis. This is not a serious disease, although it is often associated with other kinds of disorders and extraskeletal malformations that can affect the prognosis. Involvement of cranial and facial bones can lead to facial deformity and marked functional incapacity when the cranial nerves are affected. We present a case of osteopathia striata with cranial sclerosis discovered incidentally in a young woman studied for clinical manifestations unrelated to this disease (AU)

Neurological manifestations in individuals with pure cutaneous or syndromic (Ruggieri-Happle syndrome) phenotypes with "cutis tricolor": a study of 14 cases.

BACKGROUND: The term cutis tricolor describes the combination of congenital hyper- and hypo-pigmented skin lesions in close proximity to each other in a background of normal complexion. This phenomenon has been reported so far: (i) as pure cutaneous trait, (ii) as a part of a complex malformation syndrome (Ruggieri-Happle syndrome--RHS), (iii) as a distinct type (cutis tricolor parvimaculata); (iv) in association with other (e. g., vascular) skin disturbances. AIM: The aim of this study was to define the spectrum of neurological abnormalities in cutis tricolor. METHODS: A retrospective and prospective 14-year study of clinical, electroencephalographic (EEG), neuroradiological (MRI), cytogenetic and ZFHX1B gene studies of 14 individuals (8 M, 6 F; aged 2-28 years) with cutis tricolor (4 pure cutaneous; 10 syndromic) was undertaken. RESULTS: Neurological involvement was recorded in 71.4% (10/14) of the patients [100% (10/10) in RHS and null (0/4) in cases with isolated skin manifestations] and included psychomotor delay (n=8), seizures (n=9), EEG abnormalities (n=6), a behavioural phenotype (n=4), non-specific brain abnormalities (n=6). Genetic analyses excluded ZFHX1B mutations and revealed a 19qter deletion (n=1). CONCLUSIONS: Even though we could not exclude the ascertainment and referral biases, we concluded that cutis tricolor may be a marker of underlying neurological involvement particularly in subjects with a syndromic (RHS) phenotype.