A case of megalocornea-mental retardation syndrome complicated with bilateral sensorineural hearing impairment

Primary hypothyroidism and osteopenia associated with Neuhauser syndrome

“…In addition, she had primary hypothyroidism and osteopenia, which were recorded previously only in single patients [Neuhauser et al, 1975; Kimura et al, 1991]. Hypercholesterolemia, which was likely related to hypothyroidism, was also found in a 5‐year‐old MMR patient, presenting with increased serum levels of total cholesterol and triglyceride [Tominaga et al, 1999]. Recurrence of thyroid and bone defects argues for their nonrandom association with this disorder.…”

“… * Antinolo et al [1994]; Barisic et al [1996]; Del Giudice et al [1987]; Frank et al [1973]; Frydman et al [1990]; Gibbs et al [1994]; Gronbech‐Jensen [1989]; Kimura et al [1991]; Naritomi et al [1997]; Neuhauser et al [1975]; Ohno and Suzuki [1978]; Santolaya et al [1992]; Schmidt and Rapin [1981]; Tominaga et al [1999]; Temtamy et al [1991]; Verloes et al [1993]. …”

Megalocornea and Mental Retardation Syndrome: Clinical and Instrumental Follow-Up of a Case

“…In the literature, only 36 patients with megalocornea-mental retardation syndrome have been reported to date (Table 1). [1][2][3][4][5][6][7][8][9][10][11][12][13][15][16][17][18][19][20] The diagnosis of megalocornea-mental retardation syndrome is based on clinical criteria. A review of the reported cases shows that the clinical phenotype of the syndrome is well defined, although a wide clinical variability suggests a heterogeneous genotype.…”

“…In the literature, epilepsy and/or an abnormal EEG have been reported in 12 patients with megalocornea-mental retardation syndrome, but the epileptic spectrum has not yet been well defined. 1,3,6,7,11,14,16,18 Refractory epilepsy with complex partial seizures was reported only by Tominaga et al 18 Moreover, only in very few cases has hypotonia been a precursor of cerebral palsy. Only two cases had spastic diplegia, 1 two cases had choreoathetotic movements, 1 and few cases had minor neurologic abnormalities, such as clumsiness, 1,7 a dystonic habitus, 6 or stereotypic hand movements.…”

“…Few articles have yet reported neuroimaging studies (computed tomography [CT], magnetic resonance imaging [MRI]), 4,[6][7][8][9][10][11][12][13][14][15] and few authors have described the follow-up in these cases. [16][17][18] We report 5 years of clinical and MRI follow-up of a little girl with megalocornea-mental retardation syndrome, who was previously described by Sarkozy et al 14 The follow-up allowed us to better delineate the evolution of the general and neurologic clinical picture and to analyze the neuroimaging findings in greater detail. Our presentation might help better delineate the phenotype and clinical outcome of the syndrome.…”