Congenital Horner and Scimitar syndrome in a newborn: a previously unreported combination.

Here we report a case of a term newborn presenting with left palpebral ptosis, anisocoria and heterochromia as well as cleft palate and heart murmur. Congenital Horner syndrome was suspected and a thoracoabdominal CT scan was performed to rule out neuroblastoma. This revealed an anomalous drainage of right pulmonary veins to a collector that drains to the inferior vena cava, leading to the diagnosis of Scimitar syndrome. Echocardiogram showed an ostium secundum atrial septal defect, enlarged right chambers and a dilated coronary sinus due to a persistent left superior vena cava. The combination of Horner and Scimitar syndrome has never been described before. This case should encourage clinicians to use a multidisciplinary approach in order to guarantee an adequate diagnosis and management.

Smdrome de Horner congénito: Caso clmico / Congenital Horner syndrome: Case report

El síndrome de Horner está caracterizado por la siguiente tríada de signos clínicos: miosis, ptosis y anhidrosis facial. A su vez, pueden aparecer heterocromía del iris, inyección conjuntival, eritema facial, mucosa nasal congestiva y enoftalmos aparente secundario a la disminución de la hendidura palpebral. Es causado por una interrupción de la vía simpática, que se extiende desde el hipotálamo hasta la órbita. Debido a que dicha vía no se decusa, los signos son homolaterales a la lesión de esta. Tradicionalmente, se lo clasifica en congénito y adquirido. En ocasiones, se asocia a neoplasias, como el neuroblastoma. Sigue siendo controversial qué estudios de imágenes se deberían solicitar en forma protocolizada frente a un paciente con este síndrome neurológico. Se presenta el caso de un lactante de 45 días de vida con síndrome de Horner congénito.

Horner syndrome is characterized by the following triad of clinical signs: miosis, ptosis and facial anhidrosis. In addition, iris heterochromia, conjunctival injection, facial erythema, congestive nasal mucosa and apparent enophthalmos secondary to the reduction of the palpebral fissure can appear. It is caused by an interruption of the sympathetic pathway that extends from the hypothalamus to the orbit. Because there is no decussation, the signs are homolateral to the lesion. Traditionally, it is classified as congenital and acquired. Occasionally, it is associated with neoplasias such as neuroblastoma. It remains controversial what imaging studies should be requested as a protocolized workup of this neurological syndrome in a patient. We report the case of a 45-day-old infant with congenital Horner syndrome.

[Congenital Horner syndrome. Case report]. / Símdrome de Horner congénito. Caso clínico.

Horner syndrome is characterized by the following triad of clinical signs: miosis, ptosis and facial anhidrosis. In addition, iris heterochromia, conjunctival injection, facial erythema, congestive nasal mucosa and apparent enophthalmos secondary to the reduction of the palpebral fissure can appear. It is caused by an interruption of the sympathetic pathway that extends from the hypothalamus to the orbit. Because there is no decussation, the signs are homolateral to the lesion. Traditionally, it is classified as congenital and acquired. Occasionally, it is associated with neoplasias such as neuroblastoma. It remains controversial what imaging studies should be requested as a protocolized workup of this neurological syndrome in a patient. We report the case of a 45-day-old infant with congenital Horner syndrome.

El síndrome de Horner está caracterizado por la siguiente tríada de signos clínicos: miosis, ptosis y anhidrosis facial. A su vez, pueden aparecer heterocromía del iris, inyección conjuntival, eritema facial, mucosa nasal congestiva y enoftalmos aparente secundario a la disminución de la hendidura palpebral. Es causado por una interrupción de la vía simpática, que se extiende desde el hipotálamo hasta la órbita. Debido a que dicha vía no se decusa, los signos son homolaterales a la lesión de esta. Tradicionalmente, se lo clasifica en congénito y adquirido. En ocasiones, se asocia a neoplasias, como el neuroblastoma. Sigue siendo controversial qué estudios de imágenes se deberían solicitar en forma protocolizada frente a un paciente con este síndrome neurológico. Se presenta el caso de un lactante de 45 días de vida con síndrome de Horner congénito.

Congenital Cases of Concomitant Harlequin and Horner Syndromes.

We report three pediatric cases of concomitant congenital Horner and Harlequin syndromes. This association suggests a lesion at the superior cervical ganglion or just inferior. Often, no underlying lesion is documented.

Síndrome de Horner congénito: reporte de un caso / Congenital Horner syndrome: a case report

El Síndrome de Horner se refiere a una constelación de signos, los cuales resultan por la interrupción de inervación simpática del ojo y sus anexos. La etiología del mismo varía según la edad del paciente, y puede incluir condiciones que amenazan la vida. En el primer trabajo se presenta para su análisis y discusión el caso de una paciente en edad pediátrica con diagnóstico de síndrome de Horner congénito...

Unilateral straight hair and congenital horner syndrome.

Congenital Horner syndrome is a rare disorder that accounts for less than 5% of all cases of Horner syndrome. Like Horner syndrome in general, it consists primarily of ptosis, miosis, and anhidrosis. Congenital Horner syndrome may manifest some special features such as iris heterochromia since the sympathetic nervous system is an essential component for the development and maintenance of eye color. We present 3 cases of unilateral straight hair in association with congenital Horner syndrome in which the patients had straight hair ipsilateral to the Horner syndrome, whereas on the contralateral side, it was curly, and we discuss possible mechanisms for this phenomenon.

Incidence of pediatric Horner syndrome and the risk of neuroblastoma: a population-based study.

OBJECTIVE: To describe the incidence of pediatric Horner syndrome and the risk of occult malignancy in a population-based cohort. METHODS: The medical records of all pediatric patients (aged <19 years) residing in Olmsted County, Minnesota, who received diagnoses of Horner syndrome from January 1, 1969, through December 31, 2008, were retrospectively reviewed. RESULTS: Horner syndrome was diagnosed in 20 pediatric patients during the 40-year period, yielding an age- and sex-adjusted incidence of 1.42 per 100 000 patients younger than 19 years of age (95% confidence interval [CI], 0.80-2.04). Eleven of the 20 patients (55%) had a congenital onset, for a birth prevalence of 1 in 6250 (95% CI, 3333-10 000), while the remaining 9 (45%) had acquired syndromes. Seven of the 11 (63.6%) patients with congenital cases had a history of birth trauma, while the remaining 4 (36.4%) had no identifiable cause. Six of the 9 (66%) acquired cases occurred following surgery or trauma, while the remaining 3 (33%) had no known etiology. None of the 20 patients (95% CI, 0.0%-16.8%) were found to have a neuroblastoma or other malignancy during a mean follow-up of 56.5 months (range, 0-256.9 months). CONCLUSIONS: The incidence of pediatric Horner syndrome in this population was 1.42 per 100 000 patients younger than 19 years, with a birth prevalence of 1 in 6250 for those with a congenital onset. Birth, surgical, or other trauma occurred in 13 (65%) of the patients, while none were found to have an underlying mass lesion, suggesting a need for reappraising current recommendations for extensive evaluations in these patients.

Bilateral brachial plexus palsy and right Horner syndrome due to congenital cervicothoracal syringomyelia.

Syringomyelia (SM) is a disorder in which a cyst forms within the spinal cord. This cyst, called a syrinx, expands and elongates over time, destroying the center of the cord. Horner syndrome is an infrequent illness caused by a lesion of the cervical sympathetic nerve fiber. Its clinical features are facial anhidrosis, ptosis, miosis, and hypochromia iridis of the affected side. A full-term male newborn infant was admitted with weakness in bilateral upper extremities and narrowing of the palpebral fissure on the right side. Ophthalmologic examination revealed a smaller right pupil. Muscle power in bilateral upper limbs was 1/5. Chest X-ray and cranial magnetic resonance imaging were normal. Magnetic resonance imaging of the cervicothoracic spine showed SM at C4-T2 level. Electromyographic examination revealed bilateral brachial plexus palsy. The diagnosis was of brachial plexus palsy and congenital Horner syndrome due to congenital cervicothoracic SM. According to our best knowledge, this association has not been reported in the literature.

[Congenital Horner syndrome associated with hypoplasia of the internal carotid artery]. / Syndrome de Claude Bernard-Horner congénital associé à une hypoplasie de la carotide interne.

INTRODUCTION: Hypoplasia of the internal carotid artery is a rare cause of congenital Horner syndrome. Birth trauma is the most common identifiable cause. We report a case of congenital Horner syndrome associated with ipsilateral hypoplasia of the internal carotid artery. OBSERVATION: A 5-month-old boy presented with left Horner syndrome with myosis, iris hypopigmentation, and enophthalmia. Cranial magnetic resonance imaging was normal. Cerebral angiography showed hypoplasia of the left internal carotid artery. The anterior and middle cerebral arterial flow was supplied through the communicating arteries. Computed tomography demonstrated hypoplasia of the left carotid canal. CONCLUSION: Infants with isolated congenital Horner syndrome with no history of birth trauma require complete investigation by a pediatrician. CT or MRI imaging should be discussed to search for associated abnormalities.

Agenesis of internal carotid artery in a child with ipsilateral Horner's syndrome.

Horner's syndrome is characterized by a classic triad of ipsilateral pupillary miosis, partial eyelid ptosis, and facial anhydrosis. This case study reports a 7-year-old boy with right miosis, mild blepharoptosis, and iris hypopigmentation detected in a routine pediatric follow-up without ipsilateral facial anhydrosis, flushing, or pain. There was no history of birth trauma and test with cocaine provoked no response of the right pupil, suggesting right Horner's syndrome. Mediastinal tumor was ruled out and brain magnetic resonance imaging incidentally showed absence of flow in the right internal carotid artery. Subsequent magnetic resonance angiography demonstrated agenesis of the right internal carotid artery without other vascular-associated malformations. The final diagnosis was right, congenital Horner's syndrome due to ipsilateral internal carotid agenesis. We describe in detail the radiological findings and pathophysiological mechanisms of this unusual association.

Heterochromia.

A patient was noted to have 2 different eye colours and miosis in her left eye. She ultimately received a diagnosis of congenital Horner syndrome. Determinants of eye colour and possible clinical significance are discussed.

Split notochord syndrome with congenital unilateral Horner's sign.

A 2-year-old boy exhibited congenital right Horner's sign and right finger, wrist, and elbow flexion arthrogryposis. He had dyspnea and feeding difficulty 12 hours after birth. Radiologic examination revealed a thoracoabdominal intestinal tube and mediastinal cystic lesion at the right side, with vertebral anomaly at the cervical level. Histopathologically, the intestinal tube was diagnosed as bowel duplication. Because the mediastinal lesion could not be resected surgically, no histopathological diagnosis was made. Embryologically, the combination of transdiaphragmatic duplication, mediastinal cystic lesion, anterior spina bifida, and hemivertebra suggested notochord malformation. The diagnosis was split notochord syndrome, an extremely rare embryological malformation syndrome. Congenital unilateral Horner syndrome often has unknown etiology. In this case, cervical vertebral anomalies and mediastinal cystic lesion implied a compressed nerve root, resulting in Horner syndrome and right finger, wrist, and elbow flexion joint contracture. Split notochord syndrome should be included in differential diagnosis of congenital unilateral Horner syndrome.

[Dysgenesis of the carotid artery associated with congenital ipsilateral Horner syndrome].

We report a case with dysgenesis of the carotid artery associated with congenital Homer syndrome. A 6-year-old boy, who had undergone surgical repair for pulmonary atresia, ventricular septal defect, and patent ductus arteriosus at 20 months of age, presented with miosis of the left eye, and anhidrosis of the left face, neck, and shoulder girdle. Since the anhidrosis was obvious in early childhood, he was suspected as having congenital Horner syndrome. Cranial and cervical CT showed unpredicted abnormalities of the left carotid arteries, including the absence of an internal carotid artery (ICA), and hypoplasia of the common carotid and external carotid arteries. The anterior and middle cerebral arterial flow was supplied through the communicating arteries. Congenital agenesis of the ICA was highly suspected, because the left carotid canal could not be discerned at all. The concurrence of agenesis of ICA with ipsilateral Horner syndrome is accounted for by simultaneous organogenesis of the carotid artery and cervical sympathetic nerve, both of which are derived from neural crest cells. Developmental anomalies of the cervical neural crest, though rare, should be included in the differential diagnosis of congenital Homer syndrome.