Familial Spastic Paraplegia, Mental Retardation, and Precocious Puberty

Mi, Raphaelson; Jc, Stevens; Elders, Just Like Their; Comite, Florence; Wh, Theodore

doi:10.1001/archneur.1983.04050120059008

Cited by 14 publications

(7 citation statements)

References 14 publications

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“…HSP can be pure or complicated (4). The complicated form differs from the pure form by the presence of additional neurological (4) or non-neurological features (5)(6)(7). These include seizures, mental retardation, cerebellar ataxia, peripheral neuropathy, cutaneous lesions, precocious puberty, cardiac abnormalities, the Ehlers-Danlos syndrome and the May-Hegglin anomaly.…”

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confidence: 99%

Hereditary spastic paraplegia and Evans's syndrome

et al. 1996

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confidence: 99%

Hereditary spastic paraplegia and Evans's syndrome

et al. 1996

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“…Several other reports have described at least 1 affected member having seizures in a family with HSP (12)(13)(14)(15)(16). Abnormal EEGs, without clinical evidence of epilepsy in family members with HSP, have also been reported (17)(18)(19)(20)(21)(22)(23)(24)(25).…”

Section: Discussionmentioning

confidence: 99%

A Family with Hereditary Spastic Paraparesis and Epilepsy

et al. 1997

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Summary: Purpose:We describe a family with hereditary spastic paraparesis (HSP) in which 4 of 6 affected members also have epilepsy.Methods: All family members were examined by 2 neurologists. Four affected and 3 unaffected family members had EEG recordings. Four affected members were investigated for other causes of spastic paraparesis and epilepsy.Results: Epileptic symptoms varied among family members: 1 had complex partial seizures, another had focal myoclonic epilepsy, and 2 had simple partial seizures secondarily generalized. All 4 had clinical or EEG evidence to support a focal origin for the epilepsy, and 2 had photoparoxysal responses on EEG. Symptoms were more severe and occurred earlier in the younger generation, suggesting genetic anticipation in this family. The onset of epilepsy developed simultaneously with, or G18 years before, onset of gait disturbance. Three unaffected family members had normal EEGs.Conclusions: The association of HSP and epilepsy should no longer be assumed to be fortuitous.

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“…However TCPP may be secondarily related to brain tumors (hamartoma especially), brain infections, congenital brain defects, cranial irradiation, insults and injuries to the brain or spinal cord (including cerebral palsy, hydrocephalus and brain ischemia) [4]. Moreover TCPP has been widely described in association with learning disability syndromes, including Angelman, Kabuki make-up syndrome and other genetic conditions in which mental retardation is a key clinical feature [5-8]. Phenylketonuria (PKU) is an autosomal recessive disease caused by a deficient activity of Phenylalanine Hydroxylase (PAH), the enzyme which metabolizes Phenylalanine (Phe) to Tyrosine (Tyr).…”

Section: Introductionmentioning

confidence: 99%

Central precocious puberty in a 3 year-old girl with Phenylketonuria: a rare association?

et al. 2014

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BackgroundCentral precocious puberty (CPP) and phenylketonuria (PKU) are two rare conditions, the latter being the rarer. To date, only one case featuring both these conditions has been reported, and hyperphenylalaninemia was assumed triggering CPP.Case presentationWe present a 3.2 years old girl referred with a 12 months history of breast and pubic hair development, and vaginal discharge. Hyperphenylalaninemia had been identified by newborn screening and PKU subsequently confirmed by plasma amino acid and genetic analysis. Early dietary control of plasma phenylalanine had been excellent afterwards, resulting in phenylalanine concentrations consistently within the recommended range. Clinical scenario, hormonal assessment and imaging were in keeping with true idiopathic central precocious puberty. Treatment with long lasting gonadotropin-releasing hormone analogue led to regression of secondary sexual characteristics.ConclusionWe describe for the first time CPP in a girl affected with PKU but with persistently well controlled blood phenylalanine concentrations. This finding is in contrast to a previous report which suggested persistently high phenylalaninemia levels as potential trigger for CPP in PKU patients. Our report, together with the lack of evidence in published cohort studies of children with PKU, strongly suggests this rare association is coincidental and independent of the presence of severe hyperphenylalaninemia.

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Familial Spastic Paraplegia, Mental Retardation, and Precocious Puberty

Cited by 14 publications

References 14 publications

Hereditary spastic paraplegia and Evans's syndrome

Hereditary spastic paraplegia and Evans's syndrome

A Family with Hereditary Spastic Paraparesis and Epilepsy

Central precocious puberty in a 3 year-old girl with Phenylketonuria: a rare association?

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