Nystagmus in an Emaciated Infant

Dhannawat, Sneh S.; Rao, Amulya A. Nageswara; Brodsky, Michael C.

doi:10.1001/jamaophthalmol.2015.1940

Cited by 4 publications

(3 citation statements)

References 9 publications

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“…Diagnosis of OPHG, in patients presenting with DS, is generally made at a younger age, than in patients with other presenting symptoms of OPHG 3,18. In the analysis of 520 patients with LGG at SickKids, the mean age for patients with OPHG without DS was significantly higher (4.56 y) 5.…”

Section: Discussionmentioning

confidence: 98%

“…Diagnosis of OPHG, in patients presenting with DS, is generally made at a younger age, than in patients with other presenting symptoms of OPHG. 3,18 In the analysis of 520 patients with LGG at SickKids, the mean age for patients with OPHG without DS was significantly higher (4.56 y). 5 Previously reported cases of NF1-associated OPHG presenting with DS Table, Supplemental Digital Content 1, http://links.lww.com/JPHO/A572) had a median age at diagnosis of 1.77 (range: 0.5 to 5.8 y).…”

Section: Discussionmentioning

confidence: 99%

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Treatment of NF1-Associated Optic Pathway/Hypothalamic Gliomas in Patients With Diencephalic Syndrome

Weiser

Hengartner

Kottke³

et al. 2022

Journal of Pediatric Hematology/Oncology

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Diencephalic syndrome is usually associated with tumors in the hypothalamic region, rarely occurring in patients with neurofibromatosis type 1 (NF1)-associated gliomas. We describe the clinical presentation and response to treatment in 3 patients with NF1 presenting with diencephalic syndrome as first symptom of optic pathway/hypothalamic glioma (OPHG). Because of the rarity of this constellation, knowledge about the clinical course and best treatment options for patients with NF1-associated OPHG and diencephalic syndrome is still limited. All 3 patients showed good response to treatment with normalization of body mass index and decrease in tumor volume within 6 months.

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Section: Discussionmentioning

confidence: 98%

Section: Discussionmentioning

confidence: 99%

Treatment of NF1-Associated Optic Pathway/Hypothalamic Gliomas in Patients With Diencephalic Syndrome

Weiser

Hengartner

Kottke³

et al. 2022

Journal of Pediatric Hematology/Oncology

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“…The neurological features due to IH are frequently found, being vomiting the most common, followed by headache, instability gait, and, more rarely, papilledema. Ocular manifestations as nystagmus, strabismus, and visual loss, are other common neurological signs related to DS [ 3 – 12 , 34 ]. Since both neurological and ophthalmological signs may be late, delay in diagnosis is frequently reported [ 7 , 10 , 14 – 16 , 35 ].…”

Section: Discussionmentioning

confidence: 99%

Diencephalic syndrome in childhood, a challenging cause of failure to thrive: miniseries and literature review

et al. 2022

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The aim of our study was to better define the clinical pattern of diencephalic syndrome, a rare but potentially lethal cause of failure to thrive in infancy. Poor weight gain or weight loss, the characteristic presenting feature, often firstly attributed to gastrointestinal or endocrinological or genetic diseases, is secondary to a malfunctioning hypothalamus, caused by a diencephalic tumor. Due to its unexpected clinical onset, diagnostic delay and misdiagnosis are common. We described a case series of 3 children with diencephalic syndrome admitted at our Hospital, over a 5-year period. Furthermore, a narrative review on all pediatric cases published in the last seventy years was performed. Clinical pattern, timing to diagnosis, neuroimaging, management, and outcome were analyzed. Our three cases are singularly described in all clinical and diagnostic findings. Overall, 100 children were selected; all these cases as well as our children presented with failure to thrive: 96% had body mass index or weight-length/height ratio lower than 5th percentile. Vomiting and hyperactivity are reported in 35 and 26% of cases, respectively. The neurological features, mainly nystagmus reported in 43%, may occur late in the disease course. In conclusion, the diagnostic delay is the hallmark of diencephalic syndrome, confirming the lack of knowledge by clinicians. The poor weight gain/loss despite adequate length growth and food intake, especially in children with hyperactivity and good psychomotor development, should alert pediatricians towards this condition, before neurological signs/symptoms occurrence.

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Neuro-Ophthalmologic Manifestations of Systemic and Intracranial Disease

Brodsky¹

2016

Pediatric Neuro-Ophthalmology

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Nystagmus in an Emaciated Infant

Cited by 4 publications

References 9 publications

Treatment of NF1-Associated Optic Pathway/Hypothalamic Gliomas in Patients With Diencephalic Syndrome

Treatment of NF1-Associated Optic Pathway/Hypothalamic Gliomas in Patients With Diencephalic Syndrome

Diencephalic syndrome in childhood, a challenging cause of failure to thrive: miniseries and literature review

Neuro-Ophthalmologic Manifestations of Systemic and Intracranial Disease

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