Oftalmoplejía externa y visceromegalia como alerta de enfermedad de Gaucher en pacientes con trastornos del neurodesarrollo / External ophthalmoplegia and visceromegaly as alert for Gaucher disease in patients suffering neurodevelopmental disorders

Objetivo: Valorar la importancia de la asociación de visceromegalia y oftalmoplejía externa de aparición temprana en la vida, en pacientes con trastornos del neurodesarrollo, para eldiagnóstico de la forma neuronopática de enfermedad de Gaucher.Caso clínico: Lactante de seis meses ingresada por presentar afectación global del neurodesarrollo, microcefalia, postura frecuente de hiperextensión de cuello y tronco (opistótonos), crisis recurrentes de cianosis, hepatomegalia, esplenomegalia y evidente limitación de la motilidad ocular extrínseca bilateral. Además, se evidenció en la paciente retraso de la osificación. La existencia de hepatoesplenomegalia y limitación dela motilidad ocular extrínseca bilateral fueron manifestaciones decisivas en el diagnóstico clínico, aunque inicialmente hubo dudas respecto a la afectación del neurodesarrollo, (retraso vs regresión). No obstante, la determinación de la mutación L444P del gen GBA1 permitió el diagnóstico definitivo.Conclusiones: La presencia de visceromegalia y oftalmoplejía externa bilateral de aparición temprana en la vida, en pacientes con trastornos del neurodesarrollo, son manifestacionesque sugieren la forma neuronopática (tipo 2) de la enfermedad de Gaucher. Estos pacientes pueden presentar manifestaciones atípicas como retraso del neurodesarrollo y afectación ósea(AU)

Objective: To assess the importance of the association of visceromegaly and early-onset external ophthalmoplegia, in patients with neurodevelopmental disorders, for the diagnosis of the neuropathic form of Gaucher disease.Clinical case report: A six-month-old infant was admitted for showing globalneurodevelopmental involvement, microcephaly, frequent posture of neck and trunk hyperextension (opisthotonos), recurrent cyanosis crises, hepatomegaly, splenomegaly, andevident limitation of bilateral extrinsic ocular motility. Furthermore, delayed ossification was evident in the patient. The existence of hepatosplenomegaly and limitation of bilateral extrinsic ocular motility were decisive manifestations in the clinical diagnosis, although initially there were doubts regarding neurodevelopmental involvement (delay vs. regression). However, the determination of L444P mutation of GBA1 gene allowed thedefinitive diagnosis.Conclusions: The presence of visceromegaly and early-onset bilateral external ophthalmoplegia, in patients with neurodevelopmental disorders, are manifestations that suggest Gaucher disease neuropathic form (type 2). These patients may have atypicalmanifestations such as neurodevelopmental delay and bone involvement(AU)

Jacques Guillemeau's 16th-century account of ophthalmoplegia.

In 1585, the renowned French royal surgeon Jacques Guillemeau published his Traité des maladies de l'oeil. The book is divided into 9 unequal sections devoted to the description of eye anatomy and ophthalmological diseases including muscle, membrane, and humor disorders; optic nerve damage; and eyelid affections. Section 3, in particular, focuses on a form of ophthalmoplegia involving progressive paralysis of extraocular muscles. Here we describe and discuss Guillemeau's theoretical framework and practical approach to this ophthalmological disorder. To determine whether this physician was possibly influenced by the thought of antique and contemporary learned men, we reviewed some fundamental ideas on cranial nerves and their paralysis as presented by authors such as Herophilus of Chalcedon, Erasistratus of Ceos, Claudius Galen, Andreas Vesalius, and Leonhard Fuchs.

A new prism use for treatment of cyclo-deviation in trochlear nerve injury.

Visual problems are common in patients with severe TBI. Diplopia is among the most frustrating of visual disturbances for patients, due to its functional consequences. This is further compounded by often slow, and at times, incomplete or partial recovery over six months or longer. Ocular cranial nerve injuries (particularly trochlear nerve) occur in 0.2%-1.4% of severe TBI patients. This paper presents a new prism treatment application for treating rotational diplopia arising from Trochlear nerve injury.

Ophthalmoplegic migraine: past, present and future.

Ophthalmoplegic migraine (OM) is a rare disorder characterized by childhood onset, ophthalmoplegia and migraine headaches. The 3rd cranial nerve is commonly involved in recurrent attacks. Involvement of the sixth and fourth nerves is uncommon. GdMRI discloses enhancement of the nerves. Adult cases are rare and confined to case reports. A viral pathogenesis is considered to be the cause of OM in view of nerve enhancement. We look at the various aspects of OM in children and adults.

The death of Alexander the Great--a spinal twist of fate.

Alexander the Great died in 323 B.C. from an unknown cause. Physical depictions of this historical figure reveal the likelihood of a cervical scoliotic deformity. This is substantiated with the medical history and is correlated with his untimely death. For the first time, it is concluded that Alexander's death may have ensued from the sequelae of congenital scoliotic syndrome.

[Classical brain stem syndrome. Definitions and history]. / Die klassischen Hirnstammsyndrome. Definitionen und Geschichte.

BACKGROUND: Inaccurate definitions of brain stem syndromes in the literature. METHOD: The original publications of the authors during the last century and the early years of this one were studied in relation to the neuro-ophthalmological diagnosis and neuroanatomy. It is the goal of this medico-historical investigation to compare the knowledge available at this time when the first descriptions were made with the clinical experience and understanding of today. RESULTS: The following classical brain stem syndromes are important for an ophthalmologist: diseases with III-paresis: Weber's syndrome (1863, ipsilateral oculomotor paralysis with alternating hemiplegia), Benedikt's syndrome (1889, oculomotor paralysis and crossed hemiparesis with tremor), Nothnagel Claude's syndrome (III-Paresis with alternating ataxia); diseases with VII-paresis: Millard Gubler's syndrome (1856, nuclear 7th nerve palsy with crossed hemiparesis), Foville's syndrome (1858, conjugate lateral gaze paralysis, ipsilateral nuclear palsy of the 7th nerve, crossed hemiparesis); diseases with VI-paresis: Raymond Cestan's syndrome (1895, abducent nerve paralysis with contralateral hemiparesis). Brain stem lesions are also found in Wallenberg's syndrome (1895, Horner's syndrome, absent corneal reflex, lateropulsion of saccadic eye movements, nystagmus, ataxia, dysphagia, hoarseness, sensory loss over the facial region, contralateral dissociated diminished sensibility (hemiparesis), etc.). The following two syndromes do not belong to the above-mentioned classical examples, because lesions of the long tracts of the brain stem are absent. However, since these two syndromes are accompanied by both ocular and neurological signs which indicate typical lesions of the brain stem, they are also mentioned here: Parinaud's syndrome (1883, paralysis of conjugate vertical gaze and paresis of convergence together with additional neuro-ophthalmological signs) and the Koerber Salus Elschnig's syndrome (1903, 1910, 1913, nystagmus retractorius, vertical gaze palsy, pupillary disturbances, and signs of midbrain disease). CONCLUSIONS: The first descriptions of these syndromes, together with the figures illustrating the neuroanatomical findings in these lesions, are helpful for assessing the clinical picture. Some named syndromes which are used today in clinical diagnosis (e.g. Parinaud's syndrome) do not exactly correspond to the first descriptions in the last century.

Posey and Spiller and progressive supranuclear palsy: an incorrect attribution.

In 1904 and 1905, respectively, William Campbell Posey and William Spiller both described the case of a patient with progressive ophthalmoparesis and imbalance that has come to be regarded as the earliest report of progressive supranuclear palsy. No autopsy was thought to have been performed on this patient. In this report, we review the clinical history provided by Posey and Spiller. We also report on the subsequent autopsy of their patient, which was performed by Spiller in 1906. The chief finding was a tumor involving the right cerebral peduncle and periaqueductal area. The autopsy findings prove conclusively that the patient described by Spiller and Posey had a midbrain neoplasm and not progressive supranuclear palsy.

[The contribution of Alfred K. Graefe to surgical treatment of paretic squint in the second half of the 19th century]. / Der Beitrag Alfred K. Graefes zur operativen Behandlung des paretischen Schielens im ausgehenden 19. Jahrhundert.

Alfred Graefe is one of the three important ophthalmologists of the Graefe family in the nineteenth century, who were engaged scientifically with squint. He dealt with disorders of ocular motility in twenty publications. In: "The indication of operative treatment of paretic eye deviations" Graefe suggested three operative principles: Resection of the paretic muscle, tenotomy of the ipsilateral antagonist and tenotomy of the contralateral synergist. Depending on the amount of the motility disturbance Graefe recommended one or several of these methods. Concerning the vertical muscles Graefe emphasized the importance of parallelism of the retinal meridians. Hence, in the case of superior oblique palsy he favoured a tenotomy of the contralateral inferior rectus.

[From muscle to central nervous system: birth and future of the mitochondrial encephalomyopathy concept]. / Du muscle au système nerveux central. Naissance et devenir du concept d'encéphalomyopathie mitochondriale.

The various types of ophthalmoplegia described in the second half of the 19th century were attributed to degeneration of the oculomotor nuclei. In the middle of the 20th century, a reversal of opinions ascribed these disorders to a primary muscle lesion, and this was accepted as a dogma for 20 years. However, the finding of mitochondrial abnormalities, not only in muscles but also in the nervous system and in a variety of viscera, gradually led to the concept of a multiple system syndrome. Advances in biochemistry then revealed multiple alterations of the mitochondrial function, especially in the respiratory chain, and ultimately the concept of mitochondrial heredity was developed by molecular biology. At present, two approaches are possible. Those who opt for the first one consider that a large number of muscular, nervous, endocrine, cardiac, hepatic or renal abnormalities have as common substrate a disease of mitochondria producing unclassifiable biochemical abnormalities. Partisans of the second approach individualize, for clinical and genetic reasons, several autonomous syndromes, the best known of which is Kearns-Sayre syndrome. In any case, this evolution of concepts illustrates an advance in medicine: the starting point was a localized muscle lesion, while the end-point is a complex, multiple system dysfunction which, analyzed with increasingly greater precision, gives a glimpse of future therapeutic applications.