Septo‐optic dysplasia in childhood: the neurological, cognitive and neuro‐ophthalmological perspective

Signorini, Sabrina; Decio, Alice; Fedeli, Cristina; Luparia, Antonella; Antonini, Mauro; Bertone, Chiara; Misefari, Walter; Ruberto, Giulio; Bianchi, Paolo Emilio; Balottin, Umberto

doi:10.1111/j.1469-8749.2012.04404.x

Cited by 41 publications

(61 citation statements)

References 23 publications

(83 reference statements)

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“…A recent study with 17 patients found developmental/cognitive delay in nearly half the patients, particularly in motor skills and language. Relational and communication difficulties and stereotyped behaviours (motor sterotypies and echolalia) were also reported 22 24–26. A correlation between the development/cognition and the degree of visual impairment was found, supporting the important role of vision in child development 22…”

Section: Discussionmentioning

confidence: 99%

Septo-optic dysplasia: fitting the pieces together

et al. 2013

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A 7-year-old boy was admitted for a general tonic-clonic seizure with severe hypoglycaemia (1.39 mmol/l). His medical history was remarkable for a congenital left eye strabismus, unilateral cryptorchidism and three previous episodes of hypoglycaemic seizures with inconclusive metabolical and neurological investigations. Physical examination revealed a hoarse tone voice, dry skin, cold extremities and height in the third percentile (target height between 50th and 85th percentile). Left wrist radiography revealed a bone age of 4.5 years ±6 months Laboratory studies confirmed growth hormone deficiency and central hypothyroidism. The brain MRI showed an ectopic neurohypophysis. Neuroophthalmology investigation revealed left optic nerve hypoplasia and septo-optic dysplasia was then diagnosed. Thyroid and recombinant growth hormone replacement were started showing clinical improvement. A detailed clinical history and a careful physical examination in children presenting with multiple clinical signs of hypopituitarism may lead to a timely diagnosis, avoiding clinical morbidity associated to untreated hormonal abnormalities.

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Section: Discussionmentioning

confidence: 99%

Septo-optic dysplasia: fitting the pieces together

et al. 2013

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“…In 1970, hypophyseal dysfunction was shown in patients with SOD (2). The incidence of this disease, which is equally seen in both sexes, is 1/10 000 (2,3,4). Diagnosis is made by the presence of two out of three criteria, namely, optic nerve hypoplasia, hypopituitarism and midline brain defects (septum pellucidum and/or corpus callosum agenesis/hypoplasia) (2,3,4,5).…”

Section: Introductionmentioning

confidence: 99%

“…The incidence of this disease, which is equally seen in both sexes, is 1/10 000 (2,3,4). Diagnosis is made by the presence of two out of three criteria, namely, optic nerve hypoplasia, hypopituitarism and midline brain defects (septum pellucidum and/or corpus callosum agenesis/hypoplasia) (2,3,4,5). SOD has a multifactorial etiopathogenesis and it has been shown that mutations in HESX1, SOX2, SOX3 and OTX2 genes are responsible for less than 1% of cases (2,3,4).…”

Section: Introductionmentioning

confidence: 99%

“…Diagnosis is made by the presence of two out of three criteria, namely, optic nerve hypoplasia, hypopituitarism and midline brain defects (septum pellucidum and/or corpus callosum agenesis/hypoplasia) (2,3,4,5). SOD has a multifactorial etiopathogenesis and it has been shown that mutations in HESX1, SOX2, SOX3 and OTX2 genes are responsible for less than 1% of cases (2,3,4). Although many cases are sporadic, the frequency of autosomal recessive inheritance is increased especially in consanguineous marriages.…”

Section: Introductionmentioning

confidence: 99%

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Acceleration of Puberty During Growth Hormone Therapy in a Child with Septo-Optic Dysplasia

Çatlı

Altıncık²,

Anık³

et al. 2014

Jcrpe

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Septo-optic dysplasia (SOD) is a heterogeneous disorder of the central nervous system characterized by various endocrinological and neurological findings. It is a complex disease caused by a combination of genetic and environmental factors. Herein, we report the case of a 5.5-year-old girl who presented with short stature and strabismus. Ophthalmological examination revealed bilateral optic nerve hypoplasia. Ectopic posterior pituitary and bilateral optic hypoplasia were detected on brain magnetic resonance imaging. The presence of bilateral optic nerve hypoplasia and hypopituitarism led to the diagnosis of SOD. An abated growth hormone (GH) response was found in the GH stimulation test and GH replacement therapy was initiated. At the end of the first year of clinical follow-up, secondary hypothyroidism was detected and L-thyroxine was added to the treatment. At the age of 8.25 years, thelarche was noted and 6 months later, the patient presented with menarche. At this time, the bone age was 12 years and the basal luteinizing hormone level was 7 mIU/mL. These findings indicated acceleration in the process of pubertal development. We report this case (i) to emphasize the need to investigate hypopituitarism in cases with bilateral optic nerve hypoplasia and (ii) to draw attention to the fact that during the follow-up of SOD cases receiving GH therapy, inappropriate acceleration of growth velocity and rapid improvement in bone age may be predictive of central precocious puberty development.

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“…3 Neurologic deficits are common, and range from global retardation to focal deficits such as epilepsy or hemiparesis. 5 Interestingly, OTX2 and FGF8 are also pivotal genes regulating brain stem patterning during early embryologic development. [6][7][8][9] In recent years, there has been a growing interest in the descrip-tion of congenital brain stem abnormalities.…”

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confidence: 99%