Presentation
(original magnification 400). c Many granular casts are present with marked tubular ectasia. [ojrd.biomedcentral.com]
Severe intellectual disability is often present. [rarediseases.org]
An MRI of the brain in the present case revealed DCA. [scielo.mec.pt]
Therefore, there may be an allele-specific critical role for NUP107 in regulating brain growth and GAMOS-like presentation [9]. [ncbi.nlm.nih.gov]
We reviewed their clinical manifestations, the prenatal and postnatal presentations and ultrasound findings, results of imaging studies, associated anomalies, and outcome on follow-up. [pesquisa.bvsalud.org]
Entire Body System
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Poor Feeding
[…] intervertebral disk 0005108 Adducted thumb Inward turned thumb 0001181 Aqueductal stenosis 0002410 Ataxia 0001251 Camptodactyly of finger Permanent flexion of the finger 0100490 Dandy-Walker malformation 0001305 Feeding difficulties Feeding problems Poor [rarediseases.info.nih.gov]
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Pathologist
HSL, a renal pathologist, performed and interpreted the renal histological examination and drafted the pathologic report. HIC obtained funding. All authors read and approved the final manuscript. [ncbi.nlm.nih.gov]
Respiratoric
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Pneumonia
[…] inflammation of the esophagus (esophagitis); choking; closure of the larynx due to sudden, violent laryngeal contractions (laryngospasm); an inflammatory condition of the lungs caused by the entrance of food particles into the respiratory passages (aspiration pneumonia [rarediseases.org]
Eyes
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Almond-Shaped Eyes
Her facial features had typical beaked nose, low-set, large ears, almond-shaped eyes, narrow forehead, coarse hair, and hypertelorism (Fig. 1). Her blood pressure was 67/43 mmHg. [scielo.mec.pt]
The baby displayed various features of facial dysmorphism (microcephaly, almond-shaped eye, abnormally high but narrow forehead, ocular hypertelorism, depressed nasal bridge, large and low-set ears, micrognathia, and high-arched cleft palate), and skeletal [ncbi.nlm.nih.gov]
Ears
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Low Set Ears
ears Low set ears Lowset ears [ more ] 0000369 Microphthalmia Abnormally small eyeball 0000568 Midface retrusion Decreased size of midface Midface deficiency Underdevelopment of midface [ more ] 0011800 Narrow nasal ridge Decreased width of nasal ridge [rarediseases.info.nih.gov]
He exhibited ocular hypertelorism, micrognathia, and low-set ears. A brain MRI revealed lissencephaly. Generalized edema with massive proteinuria developed soon after birth. [ncbi.nlm.nih.gov]
We describe a patient with this syndrome, a 14-month-old girl with infantile nephrotic syndrome having a protein to creatinine ratio of 6.1, microcephaly, low-set ears, hypertelorism, beaked nose, narrow-forehead, almond-shaped eyes, arachnodactyly, pinpoint [scielo.mec.pt]
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Large Ears
ears 0000400 Pachygyria Fewer and broader ridges in brain 0001302 Premature birth Premature delivery of affected infants Preterm delivery [ more ] 0001622 Seizures Seizure 0001250 Short stature Decreased body height Small stature [ more ] 0004322 5%- [rarediseases.info.nih.gov]
Her facial features had typical beaked nose, low-set, large ears, almond-shaped eyes, narrow forehead, coarse hair, and hypertelorism (Fig. 1). Her blood pressure was 67/43 mmHg. [scielo.mec.pt]
Musculoskeletal
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Decrease in Height
[…] body height Small stature [ more ] 0004322 5%-29% of people have these symptoms Abnormality of immune system physiology 0010978 Abnormality of the dentition Abnormal dentition Abnormal teeth Dental abnormality [ more ] 0000164 Abnormality of the intervertebral [rarediseases.info.nih.gov]
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Thin Fingers
Increased nasal size Increased size of nose Large nose Pronounced nose [ more ] 0000448 Ptosis Drooping upper eyelid 0000508 Renal insufficiency Renal failure Renal failure in adulthood [ more ] 0000083 Slender finger Narrow fingers Slender fingers thin [rarediseases.info.nih.gov]
Psychiatrical
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Withdrawn
Her steroids were tapered and gradually withdrawn. She was discharged on ACEi. Her renal functions remained normal throughout and the last serum creatinine was 0.34 mg/dl, which is eight months post-renal biopsy (23 months of age). [scielo.mec.pt]
Neurologic
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Delayed Speech and Language Development
speech and language development Deficiency of speech development Delayed language development Delayed speech Delayed speech acquisition Delayed speech development Impaired speech and language development Impaired speech development Language delay Language [rarediseases.info.nih.gov]
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Cognitive Impairment
80%-99% of people have these symptoms Cognitive impairment Abnormality of cognition Cognitive abnormality Cognitive defects Cognitive deficits Intellectual impairment Mental impairment [ more ] 0100543 Global developmental delay 0001263 Hypoplasia of [rarediseases.info.nih.gov]
Workup
Clinical Testing and Workup In affected infants, symptoms associated with nephrotic syndrome may become apparent within days, weeks, months, or in some cases, years after birth. [rarediseases.org]
Treatment
Treatment with corticosteroids and/or immunosuppressive drugs has not been effective for nephrotic syndrome associated with Galloway-Mowat syndrome. [rarediseases.org]
(July 2017) Treatment[edit] This section is empty. You can help by adding to it. (July 2017) References[edit] a b Cooperstone BG, Friedman A, Kaplan BS (Aug 1993). [en.wikipedia.org]
She did not get any specific treatment for the ailment till she came to us. She is the second child of a consanguineous couple. Her older sister is three years old and healthy. There was no history of such illness in any family member. [scielo.mec.pt]
61 Lin CC...Shih CS 11519896 2001 48 Diagnostic dilemmas in four infants with nephrotic syndrome, microcephaly and severe developmental delay. 61 de Vries BB...Winter RM 11310991 2001 49 A stepwise approach to the treatment of early onset nephrotic syndrome [malacards.org]
However, the baby received conservative treatment only, including intermittent albumin replacement, because the parents did not want immunosuppressive treatment or any other aggressive renal replacement therapy. [ncbi.nlm.nih.gov]
Prognosis
Overall, the long-term prognosis is not favourable, especially in early-onset cases, while the prognosis in late-onset cases, as in ours, is somewhat favourable. [scielo.mec.pt]
Parents should talk to the physician and medical team about their child’s specific case, associated symptoms and overall prognosis. [rarediseases.org]
From a pathological point of view, Keith et al. showed that children with disordered neuronal migration tend to have a worse prognosis (true GAMOS), and those without gyral abnormalities have a better prognosis [19]. [ojrd.biomedcentral.com]
Prevention
Therapy with anti-seizure (anticonvulsant) drugs may be prescribed for affected individuals who experience seizures to help prevent, reduce, or control seizures. [rarediseases.org]